ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)

dbSNP: rs1555302200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626951 SCV000747654 likely pathogenic Visual impairment; Retinal dystrophy; Color vision defect; Horizontal nystagmus 2017-01-01 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261186 SCV001438585 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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