ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.622del (p.Arg208fs)

dbSNP: rs61749671
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009946 SCV000030167 pathogenic Leber congenital amaurosis 1 1998-08-01 no assertion criteria provided literature only
Retina International RCV000084903 SCV000117039 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000009946 SCV001426312 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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