ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1842C>T (p.Tyr614=)

gnomAD frequency: 0.00003  dbSNP: rs774488435
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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 RCV001180404 SCV001345331 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442575 SCV001645526 likely benign Hypertrophic cardiomyopathy 2024-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409103 SCV002716408 likely benign Cardiovascular phenotype 2020-09-15 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.
All of Us Research Program, National Institutes of Health RCV001442575 SCV004842428 likely benign Hypertrophic cardiomyopathy 2023-12-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056641 SCV005726239 likely benign not specified 2024-11-15 criteria provided, single submitter clinical testing

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