ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser)

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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 RCV001270351 SCV001450577 likely pathogenic Retinitis pigmentosa criteria provided, single submitter clinical testing The variants is not found in population databases, same amino acid change has been previously reported pathogenic and predicted deleterious by in-silico pathogenicity predictors . (ACMG: PS1 Strong; PM2 Moderate; PP3 Supporting)

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