ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)

dbSNP: rs863225159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201681 SCV000256307 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987448 SCV004804836 likely pathogenic Orofaciodigital syndrome type 6 2024-03-17 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000201681 SCV000854662 pathogenic Joubert syndrome 17 2018-04-13 no assertion criteria provided clinical testing

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