ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) (rs62637012)

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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 pathologic Leber congenital amaurosis 4 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
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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