ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)

gnomAD frequency: 0.00005  dbSNP: rs397516474
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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)
Invitae RCV000460413 SCV000554786 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-12-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170988 SCV001333654 likely benign Cardiomyopathy 2017-12-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170988 SCV001360406 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001642557 SCV001860705 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345289 SCV002641660 likely benign Cardiovascular phenotype 2021-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003450711 SCV004181299 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450712 SCV004181300 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450710 SCV004181301 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing

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