ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) (rs878853412)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000281204 SCV000340408 uncertain significance not provided 2016-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000669603 SCV000794374 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-24 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000225627 SCV001239010 likely pathogenic Retinal dystrophy 2019-03-08 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225627 SCV000282654 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504766 SCV000598818 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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