ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.144C>T (p.Thr48=) (rs746492909)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470515 SCV000554793 likely benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2017-11-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221115 SCV000270929 likely benign not specified 2014-12-30 criteria provided, single submitter clinical testing p.Thr38Thr in exon 5 of TNNT2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. This variant has been identified in 1/8764 As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).

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