ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.1561C>T (p.Arg521Ter)

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Total submissions: 3
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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 sclerosis 2019-04-27 criteria provided, single submitter clinical testing

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