ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)

dbSNP: rs61749755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009944 SCV000030165 pathogenic Leber congenital amaurosis 1 1999-01-12 no assertion criteria provided literature only
Retina International RCV000084839 SCV000116975 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000009944 SCV001426319 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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