ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.522C>T (p.Asn174=) (rs483352833)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216648 SCV000269883 benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Asn164Asn in exon 11 of TNNT2: This variant is not expected to have clinical s ignificance because it has been identified in 0.33% (56/16512) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs483352833).
Invitae RCV000472552 SCV000554785 benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2020-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000216648 SCV000730202 likely benign not specified 2017-06-29 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 RCV000771784 SCV000904468 benign Cardiomyopathy 2018-07-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000771784 SCV001333851 benign Cardiomyopathy 2017-12-05 criteria provided, single submitter clinical testing
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology RCV000119342 SCV000154239 unknown Dilated cardiomyopathy 1DD no assertion criteria provided not provided Converted during submission to Uncertain significance.

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