ClinVar Miner

Submissions for variant NM_003280.3(TNNC1):c.144G>T (p.Leu48=)

gnomAD frequency: 0.00001  dbSNP: rs1251887019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001727955 SCV005327451 uncertain significance not provided 2024-03-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing
Clinical Genetics, Academic Medical Center RCV001700567 SCV001917252 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727955 SCV001974803 likely benign not provided no assertion criteria provided clinical testing

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