ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=)

gnomAD frequency: 0.00004  dbSNP: rs370530334
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168804 SCV000521596 likely benign not specified 2015-11-19 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.
Invitae RCV000466071 SCV000558169 benign Hypertrophic cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178567 SCV001343038 likely benign Cardiomyopathy 2019-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433724 SCV002748112 likely benign Cardiovascular phenotype 2020-05-11 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 RCV003927561 SCV004739992 likely benign MYBPC3-related condition 2020-11-30 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).

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