ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)

gnomAD frequency: 0.00007  dbSNP: rs397515955
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035474 SCV000059122 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
Invitae RCV000629075 SCV000749988 likely benign Hypertrophic cardiomyopathy 2023-09-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770337 SCV000901771 likely benign Cardiomyopathy 2016-08-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770337 SCV001358506 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426550 SCV002730683 likely benign Cardiovascular phenotype 2022-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003894852 SCV004717768 likely benign MYBPC3-related condition 2020-09-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000035474 SCV001920355 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701645 SCV001928724 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701645 SCV001957031 likely benign not provided no assertion criteria provided clinical testing

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