ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.*730dup

dbSNP: rs559951043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398404 SCV000405513 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305002 SCV000405514 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362111 SCV000405515 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing

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