ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.3741G>C (p.Gln1247His)

dbSNP: rs151187151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888000 SCV001031603 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Center for Reproductive Medicine, Peking University Third Hospital RCV001257346 SCV001433877 likely pathogenic Rudimentary fibula; Ankle flexion contracture 2019-10-16 criteria provided, single submitter clinical testing

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