ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.*151_*152dup

dbSNP: rs77115868
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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 RCV000332498 SCV000405540 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382345 SCV000405541 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269108 SCV000405542 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653583 SCV001865526 benign not provided 2021-06-18 criteria provided, single submitter clinical testing

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