ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.1956+2T>A (rs61749758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman 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

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