ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.6519_6520del (p.Gly2174fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV003885399 SCV004697954 pathogenic Joubert syndrome 17 no assertion criteria provided clinical testing

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