ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)

dbSNP: rs61750184
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Total submissions: 5
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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 dystrophy, central areolar, 1 2018-08-07 criteria provided, single submitter clinical testing
Retina International RCV000084876 SCV000117012 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000714549 SCV001426341 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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