ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.567C>T (p.Ser189=) (rs397516474)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460413 SCV000554786 likely benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2017-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036603 SCV000060258 likely benign not specified 2013-09-19 criteria provided, single submitter clinical testing Ser179Ser in exon 11 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. Ser179Ser in exon 11 of TNNT2 (allele freque ncy = n/a)

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