ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1079A>G (p.Tyr360Cys)

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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 RCV005247953 SCV005900213 uncertain significance Joubert syndrome 1 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2,PP3

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