ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) (rs1003869920)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598833 SCV000709890 pathogenic not provided 2018-08-29 criteria provided, single submitter clinical testing The R4526X variant has been reported previously in association with Usher syndrome (Nakanishi et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504721 SCV000598789 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Counsyl RCV000670712 SCV000795603 pathogenic Retinitis pigmentosa 39 2017-11-10 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504721 SCV000926722 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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