| - GRCh37:
- Chr11:47355473
- GRCh38:
- Chr11:47333922
| MYBPC3 | Q998H | Left ventricular noncompaction 10 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr11:47364703
- GRCh38:
- Chr11:47343152
| MYBPC3 | | Left ventricular noncompaction 10 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr11:47372856
- GRCh38:
- Chr11:47351305
| MYBPC3 | Q76* | MYBPC3-related condition, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Pathogenic
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47357436
- GRCh38:
- Chr11:47335885
| MYBPC3 | P910fs | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Pathogenic
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47362562
- GRCh38:
- Chr11:47341011
| MYBPC3 | P640H | Left ventricular noncompaction 10 | Uncertain significance
(Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47373047
- GRCh38:
- Chr11:47351496
| MYBPC3 | F12S | not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Uncertain significance
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47359001
- GRCh38:
- Chr11:47337450
| MYBPC3 | A848V | not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Uncertain significance
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47369474
- GRCh38:
- Chr11:47347923
| MYBPC3 | | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Benign/Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47368981
- GRCh38:
- Chr11:47347430
| MYBPC3 | K301Q | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47371664
- GRCh38:
- Chr11:47350113
| MYBPC3 | | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Likely pathogenic
(Jan 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47356682
- GRCh38:
- Chr11:47335131
| MYBPC3 | R939P | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47356710
- GRCh38:
- Chr11:47335159
| MYBPC3 | L930V | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy,
Cardiovascular phenotype | Uncertain significance
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47365099
- GRCh38:
- Chr11:47343548
| MYBPC3 | D389E | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy,
Hypertrophic cardiomyopathy | Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47356649
- GRCh38:
- Chr11:47335098
| MYBPC3 | A950E | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided
| Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354515
- GRCh38:
- Chr11:47332964
| MYBPC3 | T1114A | not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364384
- GRCh38:
- Chr11:47342833
| MYBPC3 | K485R | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy | Uncertain significance
(Jan 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47360310
- GRCh38:
- Chr11:47338759
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
| Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364168
- GRCh38:
- Chr11:47342617
| MYBPC3 | T529S | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Uncertain significance
(Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47361339
- GRCh38:
- Chr11:47339788
| MYBPC3 | P644S | Left ventricular noncompaction 10 | Uncertain significance
(Jun 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47364689
- GRCh38:
- Chr11:47343138
| MYBPC3 | F412L | Left ventricular noncompaction 10 | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47355186
- GRCh38:
- Chr11:47333635
| MYBPC3 | V1038M | Left ventricular noncompaction 10, not provided, Hypertrophic cardiomyopathy
| Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47371577
- GRCh38:
- Chr11:47350026
| MYBPC3 | E165K | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47357428-47357454
- GRCh38:
- Chr11:47335877-47335903
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr11:47364204
- GRCh38:
- Chr11:47342653
| MYBPC3 | A517S | Left ventricular noncompaction 10, Cardiovascular phenotype, Hypertrophic cardiomyopathy
| Uncertain significance
(Dec 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47367849
- GRCh38:
- Chr11:47346298
| MYBPC3 | Y333* | Hypertrophic cardiomyopathy, not provided, Left ventricular noncompaction 10
| Pathogenic
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47369402
- GRCh38:
- Chr11:47347851
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47371349
- GRCh38:
- Chr11:47349798
| MYBPC3 | | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy | Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47371387
- GRCh38:
- Chr11:47349836
| MYBPC3 | D198N | Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Uncertain significance
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47359327
- GRCh38:
- Chr11:47337776
| MYBPC3 | A776V | not provided, Cardiomyopathy, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10 | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47372087
- GRCh38:
- Chr11:47350536
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
| Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364232
- GRCh38:
- Chr11:47342681
| MYBPC3 | | Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Likely benign
(Jul 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47355552
- GRCh38:
- Chr11:47334001
| MYBPC3 | R972Q | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, not specified
| Uncertain significance
(Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47360181
- GRCh38:
- Chr11:47338630
| MYBPC3 | R733L | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
Hypertrophic cardiomyopathy | Uncertain significance
(Oct 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364705
- GRCh38:
- Chr11:47343154
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
not provided, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47372949
- GRCh38:
- Chr11:47351398
| MYBPC3 | G45R | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364175
- GRCh38:
- Chr11:47342624
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy
| Likely benign
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47359255
- GRCh38:
- Chr11:47337704
| MYBPC3 | G800E | not provided, Cardiomyopathy, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
| Uncertain significance
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47353625
- GRCh38:
- Chr11:47332074
| MYBPC3 | R1271Q | not specified, Cardiomyopathy, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
| Uncertain significance
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364152
- GRCh38:
- Chr11:47342601
| MYBPC3 | A534V | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy
| Uncertain significance
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47357457
- GRCh38:
- Chr11:47335906
| MYBPC3 | G903D | Cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
| Uncertain significance
(Nov 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364463
- GRCh38:
- Chr11:47342912
| MYBPC3 | P459S | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47369044
- GRCh38:
- Chr11:47347493
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiomyopathy,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47363694
- GRCh38:
- Chr11:47342143
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(May 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47353627
- GRCh38:
- Chr11:47332076
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Cardiomyopathy, Hypertrophic cardiomyopathy,
Cardiovascular phenotype, Left ventricular noncompaction 10 | Conflicting interpretations of pathogenicity
(May 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47353444
- GRCh38:
- Chr11:47331893
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47374232
- GRCh38:
- Chr11:47352681
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47362764
- GRCh38:
- Chr11:47341213
| MYBPC3 | P608A | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354774
- GRCh38:
- Chr11:47333223
| MYBPC3 | T1101A | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47365114
- GRCh38:
- Chr11:47343563
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Left ventricular noncompaction 10, Cardiomyopathy | Conflicting interpretations of pathogenicity
(Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47361278
- GRCh38:
- Chr11:47339727
| MYBPC3 | G664V | Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47360235
- GRCh38:
- Chr11:47338684
| MYBPC3 | | Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
| Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47354129
- GRCh38:
- Chr11:47332578
| MYBPC3 | | Hypertrophic cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
| Conflicting interpretations of pathogenicity
(Nov 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47353082
- GRCh38:
- Chr11:47331531
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353019
- GRCh38:
- Chr11:47331468
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47372799
- GRCh38:
- Chr11:47351248
| MYBPC3 | I95L | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Left ventricular noncompaction 10, not provided | Uncertain significance
(Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47360133
- GRCh38:
- Chr11:47338582
| MYBPC3 | Y749C | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
| Conflicting interpretations of pathogenicity
(Jan 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47356597
- GRCh38:
- Chr11:47335046
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy, Left ventricular noncompaction 10,
Cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 30, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47365042
- GRCh38:
- Chr11:47343491
| MYBPC3 | | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy | Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47369408
- GRCh38:
- Chr11:47347857
| MYBPC3 | T274M | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy,
Cardiomyopathy | Uncertain significance
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354858
- GRCh38:
- Chr11:47333307
| MYBPC3 | R1073W | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy,
Cardiovascular phenotype, Hypertrophic cardiomyopathy | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47362777
- GRCh38:
- Chr11:47341226
| MYBPC3 | I603M | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Cardiomyopathy,
Hypertrophic cardiomyopathy | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47357483
- GRCh38:
- Chr11:47335932
| MYBPC3 | E894D | not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354403
- GRCh38:
- Chr11:47332852
| MYBPC3 | A1151V | Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy | Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364475
- GRCh38:
- Chr11:47342924
| MYBPC3 | L455F | Hypertrophic cardiomyopathy 4, Cardiovascular phenotype, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy
| Uncertain significance
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47371620
- GRCh38:
- Chr11:47350069
| MYBPC3 | | Cardiovascular phenotype, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4,
Hypertrophic cardiomyopathy | Likely benign
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47372932
- GRCh38:
- Chr11:47351381
| MYBPC3 | | not provided, Cardiovascular phenotype, Cardiomyopathy,
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, not specified,
Hypertrophic cardiomyopathy | Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47361954
- GRCh38:
- Chr11:47340403
| MYBPC3 | | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10 | Likely pathogenic
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47372960-47372961
- GRCh38:
- Chr11:47351409-47351410
| MYBPC3 | R41fs | Left ventricular noncompaction 10 | Likely pathogenic
(Dec 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47359112
- GRCh38:
- Chr11:47337561
| MYBPC3 | K811R | Cardiomyopathy, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Aug 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47373030-47373031
- GRCh38:
- Chr11:47351479-47351480
| MYBPC3 | S18fs | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy | Likely pathogenic
(Dec 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47362756
- GRCh38:
- Chr11:47341205
| MYBPC3 | | Cardiovascular phenotype, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy
| Likely benign
(Nov 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47372811
- GRCh38:
- Chr11:47351260
| MYBPC3 | D91N | Cardiovascular phenotype, not provided, Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy | Uncertain significance
(Sep 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364254
- GRCh38:
- Chr11:47342703
| MYBPC3 | K500T | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47343435-47375684
| MADD, MYBPC3 | | Left ventricular noncompaction 10 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:47358972
- GRCh38:
- Chr11:47337421
| MYBPC3 | S858R | Left ventricular noncompaction cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr11:47360946
- GRCh38:
- Chr11:47339395
| MYBPC3 | A693S | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy 4,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47374188
- GRCh38:
- Chr11:47352637
| MYBPC3 | P4L | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, not provided, Cardiomyopathy
| Uncertain significance
(Mar 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47370063
- GRCh38:
- Chr11:47348512
| MYBPC3 | D228E | Cardiovascular phenotype, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4,
Hypertrophic cardiomyopathy, Cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 9, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47364680
- GRCh38:
- Chr11:47343129
| MYBPC3 | I415L | Left ventricular noncompaction 10, not provided, Hypertrophic cardiomyopathy,
not specified, Cardiomyopathy, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47360203
- GRCh38:
- Chr11:47338652
| MYBPC3 | R726C | Cardiovascular phenotype, Hypertrophic cardiomyopathy, not provided,
Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not specified,
Left ventricular noncompaction 10, Cardiomyopathy | Conflicting interpretations of pathogenicity
(Sep 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47355189
- GRCh38:
- Chr11:47333638
| MYBPC3 | R1037C | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy | Uncertain significance
(Dec 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364452
- GRCh38:
- Chr11:47342901
| MYBPC3 | D462E | Hypertrophic cardiomyopathy, not provided, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10 | Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47369211
- GRCh38:
- Chr11:47347660
| MYBPC3 | R281Q | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy, not provided, Hypertrophic cardiomyopathy
| Conflicting interpretations of pathogenicity
(Feb 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47354749
- GRCh38:
- Chr11:47333198
| MYBPC3 | T1109N | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, not provided,
Primary familial dilated cardiomyopathy | Uncertain significance
(Dec 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354846
- GRCh38:
- Chr11:47333295
| MYBPC3 | A1077S | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiovascular phenotype,
Cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47355128
- GRCh38:
- Chr11:47333577
| MYBPC3 | T1057M | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, not provided,
Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47358942
- GRCh38:
- Chr11:47337391
| MYBPC3 | G868S | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, not specified,
Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
| Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364481
- GRCh38:
- Chr11:47342930
| MYBPC3 | P453A | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Hypertrophic cardiomyopathy | Uncertain significance
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47355540
- GRCh38:
- Chr11:47333989
| MYBPC3 | P976R | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Cardiovascular phenotype,
Hypertrophic cardiomyopathy | Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364190
- GRCh38:
- Chr11:47342639
| MYBPC3 | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
not provided, Hypertrophic cardiomyopathy, Cardiomyopathy
| Likely benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47357552
- GRCh38:
- Chr11:47336001
| MYBPC3 | | Left ventricular noncompaction 10, not specified, Hypertrophic cardiomyopathy,
Cardiomyopathy, Hypertrophic cardiomyopathy 4 | Conflicting interpretations of pathogenicity
(Jun 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47365047
- GRCh38:
- Chr11:47343496
| MYBPC3 | G407R | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4 | Uncertain significance
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47371381
- GRCh38:
- Chr11:47349830
| MYBPC3 | S200G | Cardiomyopathy, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, not provided, Cardiovascular phenotype
| Uncertain significance
(Oct 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354497
- GRCh38:
- Chr11:47332946
| MYBPC3 | R1120C | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 4,
Left ventricular noncompaction 10, Cardiomyopathy, Hypertrophic cardiomyopathy 4,
Hypertrophic cardiomyopathy | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47356733
- GRCh38:
- Chr11:47335182
| MYBPC3 | G922E | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
not provided, Hypertrophic cardiomyopathy | Uncertain significance
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47372845
- GRCh38:
- Chr11:47351294
| MYBPC3 | | Cardiovascular phenotype, Left ventricular noncompaction 10, Hypertrophic cardiomyopathy,
Cardiomyopathy, Hypertrophic cardiomyopathy 4 | Conflicting interpretations of pathogenicity
(Aug 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:47361206
- GRCh38:
- Chr11:47339655
| MYBPC3 | T688M | Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10, Primary familial hypertrophic cardiomyopathy,
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
| Uncertain significance
(Sep 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47362686
- GRCh38:
- Chr11:47341135
| MYBPC3 | | Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10 | Uncertain significance
(Mar 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47354851
- GRCh38:
- Chr11:47333300
| MYBPC3 | T1075S | not provided, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Dilated cardiomyopathy 1A, Cardiovascular phenotype, Cardiomyopathy,
Hypertrophic cardiomyopathy | Uncertain significance
(Mar 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47356715
- GRCh38:
- Chr11:47335164
| MYBPC3 | S928L | Cardiovascular phenotype, Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy,
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10,
Cardiomyopathy, not specified, not provided,
Prolonged QT interval | Uncertain significance
(Apr 18, 2023) | criteria provided, multiple submitters, no conflicts |