ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)

dbSNP: rs62637010
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000055939 SCV000086962 not provided Leber congenital amaurosis 4 no assertion provided literature only
Retina International RCV000086228 SCV000118374 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000055939 SCV001335448 pathogenic Leber congenital amaurosis 4 no assertion criteria provided research

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