ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) (rs398124354)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082001 SCV000113936 pathogenic not provided 2013-10-24 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000710048 SCV000840426 pathogenic Leber congenital amaurosis 2018-04-13 criteria provided, single submitter clinical testing This variant was identified in combination with another variant in the same gene (compound heterozygosity) in patient with Leber congenital amaurosis.

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