ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.114G>A (p.Ala38=) (rs200283086)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421489 SCV000514924 benign not specified 2015-04-23 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 RCV000535524 SCV000646918 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619052 SCV000736989 likely benign Cardiovascular phenotype 2016-04-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV001175627 SCV001339298 likely benign Cardiomyopathy 2019-07-09 criteria provided, single submitter clinical testing
Invitae RCV001448267 SCV001651352 likely benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2020-01-09 criteria provided, single submitter clinical testing

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