ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)

dbSNP: rs62637012
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005908 SCV000026090 pathogenic Leber congenital amaurosis 4 2000-01-01 no assertion criteria provided literature only
GeneReviews RCV000005908 SCV000086964 not provided Leber congenital amaurosis 4 no assertion provided literature only
Retina International RCV000086231 SCV000118377 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000005908 SCV001335450 pathogenic Leber congenital amaurosis 4 no assertion criteria provided research

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