ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)

gnomAD frequency: 0.00002  dbSNP: rs768049705
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827616 SCV000969272 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001177460 SCV001341685 likely benign Cardiomyopathy 2019-01-25 criteria provided, single submitter clinical testing
Invitae RCV001459464 SCV001663303 likely benign Hypertrophic cardiomyopathy 2021-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409001 SCV002711154 likely benign Cardiovascular phenotype 2020-08-05 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.
Fulgent Genetics, Fulgent Genetics RCV002501160 SCV002811826 likely benign Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-11-11 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000827616 SCV001979609 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000827616 SCV001980313 likely benign not provided no assertion criteria provided clinical testing

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