ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.841A>C (p.Thr281Pro)

dbSNP: rs2037760472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Fundacion Jimenez Diaz University Hospital RCV001270358 SCV001450585 uncertain significance Retinitis pigmentosa criteria provided, single submitter clinical testing Variant not found in population databases, missense variant in a gene that has a low rate of benign missense variation, predicted deletereous by in-silico pathogenicity predictors. (ACMG: PM2 Moderate, PP2 Supporting, PP3 Supporting). Found in trans with variant NM_206933:c.841A>C)

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