ClinVar Miner

Submissions for variant NM_004727.3(SLC24A1):c.642dup (p.Thr215fs)

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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 RCV004759670 SCV005368490 pathogenic Congenital stationary night blindness autosomal dominant 2 2023-11-30 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2,PM3

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