ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.543C>T (p.Thr181=)

gnomAD frequency: 0.00002  dbSNP: rs926550445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073265 SCV002356331 likely benign Hypertrophic cardiomyopathy 2023-12-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700824 SCV001926144 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702249 SCV001932805 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700824 SCV001963669 benign not specified no assertion criteria provided clinical testing

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