| - GRCh37:
- Chr14:23885485
- GRCh38:
- Chr14:23416276
| LOC126861897, MHRT, MYH7 | A1561S | Dilated cardiomyopathy 1S | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23896032
- GRCh38:
- Chr14:23426823
| MYH7 | H666Q | Dilated cardiomyopathy 1S | Likely pathogenic (Jul 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:23895249
- GRCh38:
- Chr14:23426040
| MYH7 | N696H | Dilated cardiomyopathy 1S | Likely pathogenic (Mar 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:23889090
- GRCh38:
- Chr14:23419881
| MYH7 | D1230E | Dilated cardiomyopathy 1S | Uncertain significance (Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23900888
- GRCh38:
- Chr14:23431679
| MYH7 | | Dilated cardiomyopathy 1S | Likely pathogenic (Mar 29, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:23899101
- GRCh38:
- Chr14:23429892
| MYH7 | F341I | Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity (Mar 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23885199
- GRCh38:
- Chr14:23415990
| LOC126861897, MHRT, MYH7 | | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Myosin storage myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion | Likely benign (Sep 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886420
- GRCh38:
- Chr14:23417211
| MHRT, MYH7 | | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy | Conflicting interpretations of pathogenicity (Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23902370
- GRCh38:
- Chr14:23433161
| MYH7 | M90V | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23894106
- GRCh38:
- Chr14:23424897
| LOC126861898, MYH7 | S851T | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy | Uncertain significance (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23893195
- GRCh38:
- Chr14:23423986
| MYH7 | S948L | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy | Uncertain significance (Feb 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23892842
- GRCh38:
- Chr14:23423633
| MYH7 | Q1005E | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Myosin storage myopathy
| Uncertain significance (Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23883086
- GRCh38:
- Chr14:23413877
| MYH7 | T1891I | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, MYH7-related skeletal myopathy | Uncertain significance (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23902874
- GRCh38:
- Chr14:23433665
| MYH7 | R23Q | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, MYH7-related skeletal myopathy | Uncertain significance (Nov 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23896803
- GRCh38:
- Chr14:23427594
| MYH7 | A627S | Hypertrophic cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, MYH7-related skeletal myopathy | Uncertain significance (Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23884958
- GRCh38:
- Chr14:23415749
| LOC126861897, MHRT, MYH7 | N1679K | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, MYH7-related skeletal myopathy
| Uncertain significance (Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23899792
- GRCh38:
- Chr14:23430583
| MYH7 | A326T | Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23884589
- GRCh38:
- Chr14:23415380
| LOC126861897, MYH7 | | Dilated cardiomyopathy 1S | Uncertain significance (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23901704
- GRCh38:
- Chr14:23432495
| MYH7 | Q172E | Dilated cardiomyopathy 1S | Likely pathogenic (Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23901038
- GRCh38:
- Chr14:23431829
| MYH7 | V191I | Dilated cardiomyopathy 1S | Uncertain significance (Oct 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23884293
- GRCh38:
- Chr14:23415084
| MYH7 | N1824D | Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, See cases | Uncertain significance (Dec 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886692
- GRCh38:
- Chr14:23417483
| MHRT, MYH7 | | Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, not provided, Hypertrophic cardiomyopathy
| Benign/Likely benign (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23903380
- GRCh38:
- Chr14:23434171
| MYH7 | | not provided, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S, Myosin storage myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy
| Benign (Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23898431
- GRCh38:
- Chr14:23429222
| MYH7 | | Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Myosin storage myopathy | Likely benign (Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23884230
- GRCh38:
- Chr14:23415021
| MYH7 | | Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Myosin storage myopathy | Likely benign (May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23889069
- GRCh38:
- Chr14:23419860
| MYH7 | | Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Myosin storage myopathy | Likely benign (Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23891397
- GRCh38:
- Chr14:23422188
| MYH7 | | Hypertrophic cardiomyopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Myosin storage myopathy, Cardiovascular phenotype
| Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23891527
- GRCh38:
- Chr14:23422318
| MYH7 | G1036E | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, MYH7-related skeletal myopathy, not provided, Hypertrophic cardiomyopathy
| Uncertain significance (Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23892904
- GRCh38:
- Chr14:23423695
| MYH7 | G984V | Dilated cardiomyopathy 1S | Uncertain significance (Sep 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23886520
- GRCh38:
- Chr14:23417311
| MHRT, MYH7 | A1454D | Dilated cardiomyopathy 1S | Uncertain significance (Jun 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23888698
- GRCh38:
- Chr14:23419489
| MYH7 | E1283K | Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23885343
- GRCh38:
- Chr14:23416134
| LOC126861897, MHRT, MYH7 | R1608H | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy
| Uncertain significance (Jan 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23892827
- GRCh38:
- Chr14:23423618
| MYH7 | L1010F | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
| Uncertain significance (Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23902933
- GRCh38:
- Chr14:23433724
| MYH7 | D3E | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy | Uncertain significance (Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23899869
- GRCh38:
- Chr14:23430660
| MYH7 | M300T | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy | Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23902866
- GRCh38:
- Chr14:23433657
| MYH7 | A26T | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy | Uncertain significance (Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23891387
- GRCh38:
- Chr14:23422178
| MYH7 | | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, not specified, Hypertrophic cardiomyopathy
| Uncertain significance (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23897068
- GRCh38:
- Chr14:23427859
| MYH7 | C538* | Dilated cardiomyopathy 1S | Uncertain significance (Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23897728
- GRCh38:
- Chr14:23428519
| MYH7 | C520F | Dilated cardiomyopathy 1S | Likely pathogenic (Oct 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23889191
- GRCh38:
- Chr14:23419982
| MYH7 | A1197T | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S | Uncertain significance (Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23889069
- GRCh38:
- Chr14:23419860
| MYH7 | Q1237H | Hypertrophic cardiomyopathy | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23885347
- GRCh38:
- Chr14:23416138
| MHRT, LOC126861897, MYH7 | S1607G | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiomyopathy | Uncertain significance (Oct 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23885209
- GRCh38:
- Chr14:23416000
| LOC126861897, MHRT, MYH7 | | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiomyopathy | Uncertain significance (Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23902818
- GRCh38:
- Chr14:23433609
| MYH7 | D42N | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiomyopathy | Uncertain significance (Jul 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886080
- GRCh38:
- Chr14:23416871
| MHRT, MYH7 | | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided, Cardiomyopathy, Cardiovascular phenotype ...see more | Benign/Likely benign (Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23891434
- GRCh38:
- Chr14:23422225
| MYH7 | M1067T | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided, Cardiovascular phenotype, Cardiomyopathy | Uncertain significance (Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23889443-23889445
- GRCh38:
- Chr14:23420234-23420236
| MYH7 | | Cardiomyopathy, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myosin storage myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Congenital myopathy with fiber type disproportion, Cardiovascular phenotype
| Uncertain significance (Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23883087
- GRCh38:
- Chr14:23413878
| MYH7 | T1891A | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided, Cardiomyopathy | Uncertain significance (Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23890209
- GRCh38:
- Chr14:23421000
| MYH7 | Q1098H | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiomyopathy | Uncertain significance (Nov 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23885272
- GRCh38:
- Chr14:23416063
| LOC126861897, MHRT, MYH7 | A1632T | Cardiomyopathy, Hypertrophic cardiomyopathy, See cases, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiovascular phenotypenot provided, ...see more | Uncertain significance (Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23893219
- GRCh38:
- Chr14:23424010
| MYH7 | K940M | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiomyopathy | Uncertain significance (Sep 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23900965
- GRCh38:
- Chr14:23431756
| MYH7 | | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiomyopathy | Uncertain significance (Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886814
- GRCh38:
- Chr14:23417605
| MYH7 | | Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, Cardiovascular phenotype | Likely benign (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23891536
- GRCh38:
- Chr14:23422327
| MYH7 | | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not specified, not provided, CardiomyopathyCardiovascular phenotype, ...see more | Uncertain significance (Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23893980
- GRCh38:
- Chr14:23424771
| LOC126861898, MYH7 | A893T | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided, Cardiomyopathy | Uncertain significance (Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23883284
- GRCh38:
- Chr14:23414075
| MYH7 | R1863W | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, not provided, Cardiomyopathy | Uncertain significance (Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23882078
- GRCh38:
- Chr14:23412869
| MYH7 | | Myosin storage myopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1 | Uncertain significance (Jun 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23892825
- GRCh38:
- Chr14:23423616
| MYH7 | | Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity (Feb 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23884908
- GRCh38:
- Chr14:23415699
| LOC126861897, MHRT, MYH7 | E1696G | Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23894240
- GRCh38:
- Chr14:23425031
| LOC126861898, MYH7 | | Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Cardiomyopathy, Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity (Dec 7, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23889222
- GRCh38:
- Chr14:23420013
| MYH7 | | Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Myosin storage myopathy, Dilated cardiomyopathy 1S | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23881982
- GRCh38:
- Chr14:23412773
| MYH7 | | Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Myosin storage myopathy, Dilated cardiomyopathy 1S | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23892874
- GRCh38:
- Chr14:23423665
| MYH7 | K994R | Cardiomyopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S, Myosin storage myopathy, Hypertrophic cardiomyopathy
| Uncertain significance (Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886486
- GRCh38:
- Chr14:23417277
| MHRT, MYH7 | | MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy, Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity (Sep 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23885207
- GRCh38:
- Chr14:23415998
| LOC126861897, MHRT, MYH7 | | MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myosin storage myopathy, Dilated cardiomyopathy 1S | Uncertain significance (Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23900957
- GRCh38:
- Chr14:23431748
| MYH7 | | MYH7-related skeletal myopathy, Myosin storage myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23891497
- GRCh38:
- Chr14:23422288
| MYH7 | M1046R | Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy | Uncertain significance (Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23902292
- GRCh38:
- Chr14:23433083
| MYH7 | | Cardiovascular phenotype, Cardiomyopathy, Myosin storage myopathy, Dilated cardiomyopathy 1S, not provided, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Conduction disorder of the heart, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy ...see more | Conflicting interpretations of pathogenicity (Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23891524
- GRCh38:
- Chr14:23422315
| MYH7 | S1037Y | Dilated cardiomyopathy 1S, Myosin storage myopathy, not provided, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathyCardiovascular phenotype, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, ...see more | Uncertain significance (May 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23895198
- GRCh38:
- Chr14:23425989
| MYH7 | I713V | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy
| Uncertain significance (Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886356
- GRCh38:
- Chr14:23417147
| MHRT, MYH7 | | Dilated cardiomyopathy 1S, Myosin storage myopathy, Cardiomyopathy, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity (Feb 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23889323
- GRCh38:
- Chr14:23420114
| MYH7 | A1153T | Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
| Uncertain significance (Sep 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886078
- GRCh38:
- Chr14:23416869
| MHRT, MYH7 | E1548V | Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Myosin storage myopathy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy, Cardiomyopathy
| Uncertain significance (Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23883033
- GRCh38:
- Chr14:23413824
| MYH7 | R1909W | Dilated cardiomyopathy 1S, Myosin storage myopathy, MYH7-related skeletal myopathy, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy | Uncertain significance (May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23894015
- GRCh38:
- Chr14:23424806
| LOC126861898, MYH7 | L881R | Dilated cardiomyopathy 1S | Likely pathogenic (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23896823-23896824
- GRCh38:
- Chr14:23427614-23427615
| MYH7 | L620fs | Dilated cardiomyopathy 1S | Likely pathogenic (Jan 29, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr14:23888416
- GRCh38:
- Chr14:23419207
| MYH7 | | Cardiovascular phenotype, not provided, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy 1, Congenital myopathy with fiber type disproportion, Dilated cardiomyopathy 1S, Cardiomyopathy, Hypertrophic cardiomyopathy ...see more | Benign/Likely benign (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23888492
- GRCh38:
- Chr14:23419283
| MYH7 | R1289Q | Cardiovascular phenotype, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy
| Uncertain significance (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23899832
- GRCh38:
- Chr14:23430623
| MYH7 | F312L | Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Myosin storage myopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy, Primary familial dilated cardiomyopathy, not provided | Uncertain significance (Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23900204
- GRCh38:
- Chr14:23430995
| MYH7 | | Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S, Myosin storage myopathy, not provided | Conflicting interpretations of pathogenicity (Mar 22, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23885410
- GRCh38:
- Chr14:23416201
| LOC126861897, MHRT, MYH7 | A1586T | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Conduction disorder of the heart
| Uncertain significance (Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23891405
- GRCh38:
- Chr14:23422196
| MYH7 | D1077Y | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy | Uncertain significance (May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23886441
- GRCh38:
- Chr14:23417232
| MHRT, MYH7 | E1480D | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy
| Uncertain significance (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23884292-23884293
- GRCh38:
- Chr14:23415083-23415084
| MYH7 | N1824G | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Cardiomyopathy ...see more | Uncertain significance (Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23887491
- GRCh38:
- Chr14:23418282
| MYH7 | S1366L | Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy | Uncertain significance (Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23893307
- GRCh38:
- Chr14:23424098
| MYH7 | N911Y | Cardiomyopathy, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy
| Uncertain significance (May 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23884377
- GRCh38:
- Chr14:23415168
| MYH7 | R1796W | not provided, Cardiomyopathy, MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Cardiovascular phenotype, Hypertrophic cardiomyopathy ...see more | Uncertain significance (Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23896067
- GRCh38:
- Chr14:23426858
| MYH7 | L655M | Dilated cardiomyopathy 1S | Pathogenic (Jan 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23898440
- GRCh38:
- Chr14:23429231
| MYH7 | Q419K | Dilated cardiomyopathy 1S | Uncertain significance (Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23898506
- GRCh38:
- Chr14:23429297
| MYH7 | K397E | Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S | Likely pathogenic (Sep 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23885391
- GRCh38:
- Chr14:23416182
| LOC126861897, MHRT, MYH7 | R1592Q | Hypertrophic cardiomyopathy, Cardiomyopathy, Myopathy, myosin storage, autosomal recessive, Myosin storage myopathy, Congenital myopathy with fiber type disproportion, MYH7-related late-onset scapuloperoneal muscular dystrophy, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
| Uncertain significance (Apr 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23895282
- GRCh38:
- Chr14:23426073
| MYH7 | D685fs | Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23883021
- GRCh38:
- Chr14:23413812
| MYH7 | A1913T | Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy | Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23899783
- GRCh38:
- Chr14:23430574
| MYH7 | L329F | Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy | Uncertain significance (Nov 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23897864
- GRCh38:
- Chr14:23428655
| MYH7 | Q475K | Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity (Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23884305
- GRCh38:
- Chr14:23415096
| MYH7 | R1820G | Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy | Uncertain significance (Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23894101
- GRCh38:
- Chr14:23424892
| LOC126861898, MYH7 | M852I | Myosin storage myopathy, MYH7-related skeletal myopathy, MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23887543
- GRCh38:
- Chr14:23418334
| MYH7 | E1349K | Cardiomyopathy, Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23895221
- GRCh38:
- Chr14:23426012
| MYH7 | C705Y | Dilated cardiomyopathy 1S | Likely pathogenic (Dec 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23894008
- GRCh38:
- Chr14:23424799
| LOC126861898, MYH7 | E883D | Dilated cardiomyopathy 1S | Uncertain significance (Dec 29, 2016) | criteria provided, single submitter |