ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8263dup (p.Thr2755fs) (rs775263897)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415331 SCV000492846 pathogenic Global developmental delay; Jaundice 2013-11-28 criteria provided, single submitter clinical testing
UW Hindbrain Malformation Research Program,University of Washington RCV000201730 SCV000256302 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research

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