ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3347del (p.Phe1116fs)

dbSNP: rs62636278
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 RCV000086345 SCV000118491 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250652 SCV001425523 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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