ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)

dbSNP: rs1663780024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002308734 SCV002600267 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/chr1-216017707-T-A

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