ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)

dbSNP: rs62636269
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000086320 SCV000118466 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250636 SCV001425507 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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