ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.483A>G (p.Pro161=)

gnomAD frequency: 0.00002  dbSNP: rs373133807
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001694361 SCV001907899 likely benign not provided 2018-09-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001806246 SCV002053536 likely benign Cardiomyopathy 2021-05-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008961 SCV004834773 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651700 SCV005144247 likely benign Cardiovascular phenotype 2024-03-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004008961 SCV005824176 likely benign Hypertrophic cardiomyopathy 2024-11-26 criteria provided, single submitter clinical testing

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