ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) (rs587777079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201713 SCV000256413 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
OMIM RCV000083270 SCV000115350 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly 2013-11-07 no assertion criteria provided literature only

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