ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.8980del (p.Glu2993_Ile2994insTer)

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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 Human Genetics, University of Leipzig Medical Center RCV003494067 SCV004242436 pathogenic Joubert syndrome 17 2023-12-13 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2,PP4

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