ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1071C>T (p.Arg357=)

gnomAD frequency: 0.00001  dbSNP: rs371308153
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442094 SCV001645036 likely benign Hypertrophic cardiomyopathy 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001685356 SCV001899906 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420999 SCV002718918 likely benign Cardiovascular phenotype 2020-01-14 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.
Color Diagnostics, LLC DBA Color Health RCV005403086 SCV006063341 likely benign Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408904 SCV006071217 likely benign not specified 2025-03-31 criteria provided, single submitter clinical testing

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