ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)

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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 RCV004759477 SCV005368021 pathogenic Cone-rod dystrophy 12 2024-04-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PM3_SUP

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