ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.*153_*154del

dbSNP: rs886053263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297569 SCV000405534 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357023 SCV000405535 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262029 SCV000405536 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694345 SCV005192621 uncertain significance not provided criteria provided, single submitter not provided

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