ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)

dbSNP: rs281865408
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000084880 SCV000117016 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250811 SCV001426296 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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