ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs)

dbSNP: rs1554084360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, University of Zurich RCV000607941 SCV000579467 pathogenic Joubert syndrome 17 2017-05-18 criteria provided, single submitter clinical testing

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