ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.21G>T (p.Val7=)

gnomAD frequency: 0.00001  dbSNP: rs777128825
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612924 SCV000732546 likely benign not specified 2017-06-13 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.
Ambry Genetics RCV000620887 SCV000740197 likely benign Cardiovascular phenotype 2017-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001437113 SCV001639960 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-04-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451462 SCV004182069 likely benign Dilated cardiomyopathy 1D 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451463 SCV004182081 likely benign Cardiomyopathy, familial restrictive, 3 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451461 SCV004182092 likely benign Hypertrophic cardiomyopathy 2 2023-11-04 criteria provided, single submitter clinical testing

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