ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8725del (p.Ala2909fs) (rs770758833)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201559 SCV000256291 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research

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