ClinVar Miner

Submissions for variant NM_014336.4(AIPL1):c.-73A>G

gnomAD frequency: 0.00008  dbSNP: rs751249166
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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 RCV000297859 SCV000405657 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354948 SCV000405658 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396815 SCV000405659 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing

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