ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5958del (p.Thr1987fs)

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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 RCV003992129 SCV004812093 likely pathogenic Retinitis pigmentosa 25 2024-03-13 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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