ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.2927G>T (p.Arg976Leu) (rs61750184)

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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 RCV000714548 SCV000845248 uncertain significance Cone-rod dystrophy 6 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714549 SCV000845249 uncertain significance Leber congenital amaurosis 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714550 SCV000845250 uncertain significance Choroidal sclerosis 2018-08-07 criteria provided, single submitter clinical testing
Retina International RCV000084876 SCV000117012 not provided not provided no assertion provided not provided

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