ClinVar Miner

Submissions for variant NM_014336.4(AIPL1):c.-106C>A

gnomAD frequency: 0.10081  dbSNP: rs7211442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308327 SCV000483656 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362976 SCV000483657 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406818 SCV000483658 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613255 SCV001836563 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613255 SCV005218055 likely benign not provided criteria provided, single submitter not provided

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