ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)

gnomAD frequency: 0.00001  dbSNP: rs748798324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791168 SCV000930444 pathogenic Leber congenital amaurosis 1 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791169 SCV000930445 pathogenic Cone-rod dystrophy 6 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791170 SCV000930446 pathogenic Choroidal dystrophy, central areolar, 1 2019-04-27 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000791168 SCV001426318 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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