ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1335C>T (p.Asn445=)

gnomAD frequency: 0.03984  dbSNP: rs61731179
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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 RCV000037441 SCV000061099 benign not specified 2011-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037441 SCV000308962 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251577 SCV000318178 benign Cardiovascular phenotype 2015-06-24 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 RCV000037441 SCV000515367 benign not specified 2016-09-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521821 SCV001731231 benign Hypertrophic cardiomyopathy 14 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707863 SCV005232869 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000037441 SCV001922135 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037441 SCV001953635 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037441 SCV001965189 benign not specified no assertion criteria provided clinical testing

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