ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) (rs780667159)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989177 SCV001139397 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504726 SCV000599101 likely pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001261192 SCV001438593 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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