ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) (rs62637010)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000055939 SCV000086962 pathologic Leber congenital amaurosis 4 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
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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