ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.282A>G (p.Arg94=)

gnomAD frequency: 0.00002  dbSNP: rs397516453
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001175967 SCV001339779 likely benign Cardiomyopathy 2019-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558800 SCV003314848 likely benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2022-02-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449574 SCV004181511 likely benign Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449575 SCV004181512 likely benign Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449573 SCV004181513 likely benign Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001175967 SCV004822814 likely benign Cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729807 SCV001978236 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729808 SCV001978864 benign not specified no assertion criteria provided clinical testing

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