ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) (rs869312898)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210418 SCV000266459 likely pathogenic Orofaciodigital syndrome type 6 2015-09-01 criteria provided, single submitter research

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