ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.216G>A (p.Glu72=)

dbSNP: rs2102273980
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525829 SCV001736026 likely benign Cardiomyopathy 2021-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161057 SCV003866093 likely benign Cardiovascular phenotype 2022-12-01 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.
Genome-Nilou Lab RCV003451797 SCV004177962 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451798 SCV004177963 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451796 SCV004177965 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001525829 SCV004826236 likely benign Cardiomyopathy 2023-06-26 criteria provided, single submitter clinical testing

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