ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.601T>A (p.Tyr201Asn)

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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 RCV004759497 SCV005368068 likely pathogenic Leber congenital amaurosis 4 2024-04-24 criteria provided, single submitter clinical testing Criteria applied: PM2,PM1_SUP,PM3_SUP,PP3,PP4

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