ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1566+2T>C

dbSNP: rs61749683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000084836 SCV000116972 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250861 SCV001426353 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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