| - GRCh37:
- Chr6:118880085-118880243
| PLN, CEP85L | | Dilated cardiomyopathy 1P | Uncertain significance
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880153
- GRCh38:
- Chr6:118558990
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880100
- GRCh38:
- Chr6:118558937
| PLN, CEP85L | Y6H | Dilated cardiomyopathy 1P | Uncertain significance
(Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880129
- GRCh38:
- Chr6:118558966
| PLN, CEP85L | | Dilated cardiomyopathy 1P | Likely benign
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880205
- GRCh38:
- Chr6:118559042
| PLN, CEP85L | C41S | Dilated cardiomyopathy 1P | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880115
- GRCh38:
- Chr6:118558952
| CEP85L, PLN | A11P | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880188-118880189
- GRCh38:
- Chr6:118559025-118559026
| PLN, CEP85L | F35fs | Dilated cardiomyopathy 1P | Pathogenic
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880229-118880242
- GRCh38:
- Chr6:118559066-118559079
| PLN, CEP85L | V49fs | Dilated cardiomyopathy 1P | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880227
- GRCh38:
- Chr6:118559064
| PLN, CEP85L | I48S | Dilated cardiomyopathy 1P | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880207-118880208
- GRCh38:
- Chr6:118559044-118559045
| PLN, CEP85L | L43fs | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880222
- GRCh38:
- Chr6:118559059
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Likely benign
(Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869345
- GRCh38:
- Chr6:118548182
| PLN, CEP85L | | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880085-118880243
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Pathogenic
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880176-118880179
- GRCh38:
- Chr6:118559013-118559016
| PLN, CEP85L | F32fs | Dilated cardiomyopathy 1P | Pathogenic
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880140
- GRCh38:
- Chr6:118558977
| CEP85L, PLN | E19G | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880225
- GRCh38:
- Chr6:118559062
| CEP85L, PLN | I47M | Dilated cardiomyopathy 1P | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880115
- GRCh38:
- Chr6:118558952
| PLN, CEP85L | A11T | Dilated cardiomyopathy 1P | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880208
- GRCh38:
- Chr6:118559045
| PLN, CEP85L | L42I | Dilated cardiomyopathy 1P | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880163
- GRCh38:
- Chr6:118559000
| CEP85L, PLN | K27E | Dilated cardiomyopathy 1P | Uncertain significance
(Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880240
- GRCh38:
- Chr6:118559077
| CEP85L, PLN | | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Likely benign
(Apr 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880090-118880091
- GRCh38:
- Chr6:118558927-118558928
| CEP85L, PLN | V4fs | Dilated cardiomyopathy 1P | Pathogenic
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880238
- GRCh38:
- Chr6:118559075
| CEP85L, PLN | L52I | Dilated cardiomyopathy 1P, Cardiovascular phenotype | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118868442-118882587
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879986-118880253
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Oct 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880233
- GRCh38:
- Chr6:118559070
| CEP85L, PLN | M50T | Dilated cardiomyopathy 1P, Cardiomyopathy | Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869339
- GRCh38:
- Chr6:118548176
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Aug 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880169
- GRCh38:
- Chr6:118559006
| CEP85L, PLN | Q29* | Dilated cardiomyopathy 1P | Pathogenic
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880106-118880107
- GRCh38:
- Chr6:118558943-118558944
| CEP85L, PLN | A11fs | Dilated cardiomyopathy 1P | Pathogenic
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118881250
- GRCh38:
- Chr6:118560087
| CEP85L, PLN | | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
| Uncertain significance
(Jul 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118881146
- GRCh38:
- Chr6:118559983
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880520
- GRCh38:
- Chr6:118559357
| CEP85L, PLN | | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
| Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880395
- GRCh38:
- Chr6:118559232
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Mar 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880323
- GRCh38:
- Chr6:118559160
| PLN, CEP85L | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880174
- GRCh38:
- Chr6:118559011
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880029
- GRCh38:
- Chr6:118558866
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity
(Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118881565
- GRCh38:
- Chr6:118560402
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118881522
- GRCh38:
- Chr6:118560359
| CEP85L, PLN | | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
| Uncertain significance
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118881442
- GRCh38:
- Chr6:118560279
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118881341
- GRCh38:
- Chr6:118560178
| PLN, CEP85L | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118881255
- GRCh38:
- Chr6:118560092
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880235
- GRCh38:
- Chr6:118559072
| CEP85L, PLN | L51I | Dilated cardiomyopathy 1P | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880228
- GRCh38:
- Chr6:118559065
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Likely benign
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869224-118880253
- GRCh38:
- Chr6:118548061-118559090
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Pathogenic
(Aug 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869224-118880253
- GRCh38:
- Chr6:118548061-118559090
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Dec 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880120
- GRCh38:
- Chr6:118558957
| CEP85L, PLN | I12M | Cardiomyopathy, Dilated cardiomyopathy 1P | Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880137
- GRCh38:
- Chr6:118558974
| CEP85L, PLN | I18T | Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1P,
Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Hypertrophic cardiomyopathy
| Uncertain significance
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880197
- GRCh38:
- Chr6:118559034
| CEP85L, PLN | I38T | Dilated cardiomyopathy 1P | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880125
- GRCh38:
- Chr6:118558962
| CEP85L, PLN | R14I | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880113
- GRCh38:
- Chr6:118558950
| CEP85L, PLN | S10L | Dilated cardiomyopathy 1P | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880211-118880212
- GRCh38:
- Chr6:118559048-118559049
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Uncertain significance
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869382-118880263
- GRCh38:
- Chr6:118548219-118559100
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880106
- GRCh38:
- Chr6:118558943
| CEP85L, PLN | T8P | Dilated cardiomyopathy 1P | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880158
- GRCh38:
- Chr6:118558995
| PLN, CEP85L | R25H | Cardiovascular phenotype, Dilated cardiomyopathy 1P, not provided
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869423
- GRCh38:
- Chr6:118548260
| CEP85L, PLN | | Lissencephaly 10, not provided, not specified,
Dilated cardiomyopathy 1P | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118881486
- GRCh38:
- Chr6:118560323
| CEP85L, PLN | | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
| Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118881468
- GRCh38:
- Chr6:118560305
| CEP85L, PLN | | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
| Uncertain significance
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118881423
- GRCh38:
- Chr6:118560260
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118881415
- GRCh38:
- Chr6:118560252
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118881378
- GRCh38:
- Chr6:118560215
| CEP85L, PLN | | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
| Uncertain significance
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118881313
- GRCh38:
- Chr6:118560150
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118881134
- GRCh38:
- Chr6:118559971
| CEP85L, PLN | | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
| Uncertain significance
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118881120
- GRCh38:
- Chr6:118559957
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880824
- GRCh38:
- Chr6:118559661
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880658
- GRCh38:
- Chr6:118559495
| CEP85L, PLN | | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
| Uncertain significance
(Jul 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880640
- GRCh38:
- Chr6:118559477
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880493
- GRCh38:
- Chr6:118559330
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880333
- GRCh38:
- Chr6:118559170
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880332
- GRCh38:
- Chr6:118559169
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118879983
- GRCh38:
- Chr6:118558820
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Uncertain significance
(Apr 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869533
- GRCh38:
- Chr6:118548370
| CEP85L, PLN | | Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
| Uncertain significance
(Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869511
- GRCh38:
- Chr6:118548348
| PLN, CEP85L | | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P,
Hypertrophic cardiomyopathy | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869503
- GRCh38:
- Chr6:118548340
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118879988-118881587
- GRCh38:
- Chr6:118558825-118560424
| CEP85L, PLN | | Dilated cardiomyopathy 1P | Uncertain significance
(Jul 31, 2016) | criteria provided, single submitter |
| | PLN | | Dilated cardiomyopathy 1P | Pathogenic
(Feb 25, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118869412
- GRCh38:
- Chr6:118548249
| CEP85L, PLN | | not provided, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880118
- GRCh38:
- Chr6:118558955
| CEP85L, PLN | I12V | Cardiomyopathy, Cardiovascular phenotype, not provided,
Dilated cardiomyopathy 1P | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869417
- GRCh38:
- Chr6:118548254
| CEP85L, PLN | | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
| Uncertain significance
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880215
- GRCh38:
- Chr6:118559052
| CEP85L, PLN | L44P | Cardiovascular phenotype, Dilated cardiomyopathy 1P | Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880157
- GRCh38:
- Chr6:118558994
| CEP85L, PLN | R25C | Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1P
| Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880145-118880146
- GRCh38:
- Chr6:118558982-118558983
| CEP85L, PLN | Q22fs | Cardiovascular phenotype, not specified, Cardiomyopathy,
Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(May 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880157
- GRCh38:
- Chr6:118558994
| CEP85L, PLN | R25G | not provided, Dilated cardiomyopathy 1P | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880110
- GRCh38:
- Chr6:118558947
| PLN, CEP85L | R9H | Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1P
| Conflicting interpretations of pathogenicity
(Jun 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880229
- GRCh38:
- Chr6:118559066
| PLN, CEP85L | V49M | Cardiovascular phenotype, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18,
not provided, Cardiomyopathy, Dilated cardiomyopathy 1P
| Uncertain significance
(Jan 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880145
- GRCh38:
- Chr6:118558982
| CEP85L, PLN | P21T | Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, not provided,
Dilated cardiomyopathy 1P | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880127
- GRCh38:
- Chr6:118558964
| CEP85L, PLN | A15T | not specified, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity
(Dec 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880120-118880122
- GRCh38:
- Chr6:118558957-118558959
| CEP85L, PLN | R14del | Cardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, SUDDEN INFANT DEATH SYNDROME,
Primary dilated cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880111
- GRCh38:
- Chr6:118558948
| CEP85L, PLN | | Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Dilated cardiomyopathy 1P | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880236
- GRCh38:
- Chr6:118559073
| CEP85L, PLN | L51P | not specified, Dilated cardiomyopathy 1P | Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118869382
- GRCh38:
- Chr6:118548219
| PLN, CEP85L | | Dilated cardiomyopathy 1P | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118880200
- GRCh38:
- Chr6:118559037
| CEP85L, PLN | L39* | Cardiovascular phenotype, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P,
Cardiomyopathy, not provided, Hypertrophic cardiomyopathy 18,
Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:118880109
- GRCh38:
- Chr6:118558946
| CEP85L, PLN | R9C | not provided, Cardiomyopathy, Dilated cardiomyopathy 1P,
Primary dilated cardiomyopathy | Pathogenic
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |