ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1545C>T (p.Asn515=)

gnomAD frequency: 0.00001  dbSNP: rs771230605
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187185 SCV001353914 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001644938 SCV001860586 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559121 SCV003498852 likely benign Hypertrophic cardiomyopathy 2024-05-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002559121 SCV005430022 likely benign Hypertrophic cardiomyopathy 2024-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV005384965 SCV006035955 likely benign Cardiovascular phenotype 2025-02-22 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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