ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.4095C>T (p.Phe1365=) (rs750696838)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545974 SCV000647812 likely benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2017-08-31 criteria provided, single submitter clinical testing
Invitae RCV001497529 SCV001702261 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing

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