ClinVar Miner

Submissions for variant NM_015531.6(C2CD3):c.3741G>C (p.Gln1247His) (rs151187151)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000888000 SCV001031603 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Center for Reproductive Medicine, Peking University Third Hospital RCV001257346 SCV001433877 likely pathogenic Rudimentary fibula; Ankle contracture 2019-10-16 criteria provided, single submitter clinical testing

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