ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.68-5_68-3delinsTT (rs397516362)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036312 SCV000059964 benign not specified 2015-08-27 criteria provided, single submitter clinical testing c.68-5_68-3delinsTT in intron 4 of TNNT2: This variant is not expected to have clinical signficance because it has been identified in 4.7% (409/8652) of East A sian chromosomes including 13 homozygous individuals by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org/, pers. comm.; dbSNP rs540630390 and rs200153031). Furthermore, in vitro functional studies suggest that the c.68 -5_68-3delinsTT variant does not impact protein function (Crehalet 2012).
GeneDx RCV000159269 SCV000209215 likely benign Cardiomyopathy 2014-03-21 criteria provided, single submitter clinical testing The variant is found in HCM panel(s).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000036312 SCV000740433 likely benign not specified 2017-04-10 criteria provided, single submitter clinical testing

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