ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter)

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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 RCV003224961 SCV003921006 likely pathogenic Retinitis pigmentosa 39 2023-03-16 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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