ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.3672+8A>G (rs190206388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646717 SCV000768496 likely benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV001456853 SCV001660643 likely benign not provided 2017-09-20 criteria provided, single submitter clinical testing

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