ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.34dup (p.Val12fs)

dbSNP: rs752193525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199639 SCV001162403 pathogenic Leber congenital amaurosis 2020-01-09 criteria provided, single submitter research

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