ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.1A>G (p.Met1Val)

dbSNP: rs397516341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV000036273 SCV005425661 uncertain significance Hypertrophic cardiomyopathy 2024-08-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036273 SCV000059925 likely pathogenic Hypertrophic cardiomyopathy 2008-03-01 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729362 SCV001979265 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729362 SCV001980166 likely pathogenic not provided no assertion criteria provided clinical testing

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