ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.69A>G (p.Ala23=)

dbSNP: rs1385821757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185642 SCV001351894 likely benign Cardiomyopathy 2019-08-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008544 SCV004845005 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033349 SCV005033903 likely benign Cardiovascular phenotype 2023-12-03 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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