ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.*153del

gnomAD frequency: 0.00013  dbSNP: rs886053264
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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 RCV000312577 SCV000405537 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367277 SCV000405538 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277185 SCV000405539 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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