ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) (rs775364986)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002865 SCV001160893 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001172386 SCV001335444 pathogenic Leber congenital amaurosis 4 no assertion criteria provided research

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