ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)

dbSNP: rs766915522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464446 SCV004208251 likely pathogenic Retinitis pigmentosa 39 2023-12-06 criteria provided, single submitter clinical testing
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002308735 SCV002600268 pathogenic Usher syndrome type 2 2022-11-14 no assertion criteria provided clinical testing Novel pathogenic variant. PP4 (manual), PVS1, PM2. https://franklin.genoox.com/clinical-db/variant/snp/chr1-216062182-G-T

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