ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) (rs1284009768)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787531 SCV000926499 pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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