ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu)

dbSNP: rs148148252
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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 RCV001723353 SCV002472696 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050397 SCV005683702 uncertain significance Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 2024-05-14 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723353 SCV001955926 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723353 SCV001971111 uncertain significance not provided no assertion criteria provided clinical testing

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