ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.200-4C>G

gnomAD frequency: 0.00001  dbSNP: rs397516448
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036558 SCV000169021 benign not specified 2014-06-03 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.
Ambry Genetics RCV000621214 SCV000736106 likely benign Cardiovascular phenotype 2023-12-28 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 RCV000777959 SCV000914060 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000777959 SCV001333860 uncertain significance Cardiomyopathy 2023-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001407760 SCV001609739 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-08-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000777959 SCV004821982 likely benign Cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036558 SCV000060213 likely benign not specified 2008-05-14 no assertion criteria provided clinical testing

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