ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)

dbSNP: rs61750187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000084879 SCV000226407 likely pathogenic not provided 2015-03-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001250866 SCV004805798 likely pathogenic Leber congenital amaurosis 1 2024-03-29 criteria provided, single submitter clinical testing
Retina International RCV000084879 SCV000117015 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250866 SCV001426358 likely pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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