ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8284C>G (p.Pro2762Ala) (rs1188281491)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376219 SCV001573287 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.8284C>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS1, PM2, PM3. Based on this evidence we have classified this variant as Likely Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504749 SCV000598832 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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