ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3876G>A (p.Gln1292=)

gnomAD frequency: 0.00001  dbSNP: rs145290322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002526478 SCV000557917 likely benign Hypertrophic cardiomyopathy 14 2024-02-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256733 SCV001433139 benign not specified 2019-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356733 SCV002620063 likely benign Cardiovascular phenotype 2020-07-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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