ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1956+2T>A

dbSNP: rs61749758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761437 SCV000891519 likely pathogenic Leber congenital amaurosis 1 2017-12-30 criteria provided, single submitter curation
Retina International RCV000084843 SCV000116979 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000761437 SCV001426323 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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