ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) (rs376923877)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036620 SCV000060275 likely benign not specified 2015-10-27 criteria provided, single submitter clinical testing p.Asn269Asn in exon 15 of TNNT2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/29960 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs376923877).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724379 SCV000226234 uncertain significance not provided 2015-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000036620 SCV000533746 likely benign not specified 2017-06-13 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 Health, Inc RCV000777961 SCV000914062 likely benign Cardiomyopathy 2018-09-10 criteria provided, single submitter clinical testing
Invitae RCV001078486 SCV001009150 likely benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2020-12-01 criteria provided, single submitter clinical testing

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