ClinVar Miner

Submissions for variant NM_003673.4(TCAP):c.111-16C>G

gnomAD frequency: 0.00019  dbSNP: rs199865814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001529249 SCV001882861 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070355 SCV002419847 benign Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 2025-02-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529249 SCV001742377 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529249 SCV001957188 likely benign not provided no assertion criteria provided clinical testing

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