ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs)

dbSNP: rs786205623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171475 SCV000221674 likely pathogenic not provided criteria provided, single submitter research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261172 SCV001438568 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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