ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=)

gnomAD frequency: 0.00001  dbSNP: rs757832991
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770340 SCV000901774 uncertain significance Cardiomyopathy 2016-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861269 SCV001001531 likely benign Hypertrophic cardiomyopathy 2023-09-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770340 SCV001355846 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422654 SCV002719651 likely benign Cardiovascular phenotype 2022-06-27 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 RCV000861269 SCV004842407 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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