ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3189G>C (p.Leu1063=)

gnomAD frequency: 0.00001  dbSNP: rs745729273
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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 RCV001497497 SCV001702228 likely benign Hypertrophic cardiomyopathy 14 2024-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501711 SCV002811901 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641663 SCV005143012 likely benign Cardiovascular phenotype 2024-05-19 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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