ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) (rs779791079)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179599 SCV000231869 pathogenic not provided 2014-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000671027 SCV000795965 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-26 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505154 SCV000598771 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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