ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3408G>A (p.Lys1136=)

gnomAD frequency: 0.01687  dbSNP: rs28730770
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037477 SCV000061135 benign not specified 2012-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247933 SCV000318472 benign Cardiovascular phenotype 2015-07-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000037477 SCV000515696 benign not specified 2016-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000458903 SCV000557888 benign Hypertrophic cardiomyopathy 14 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811259 SCV002049560 benign not provided 2021-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496590 SCV002799120 benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-09-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037477 SCV001920847 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037477 SCV001957066 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037477 SCV001967895 benign not specified no assertion criteria provided clinical testing

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