ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly) (rs144391535)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878805 SCV001021772 likely benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001562042 SCV001784748 likely benign not provided 2020-11-09 criteria provided, single submitter clinical testing

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