ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.784+18G>A

gnomAD frequency: 0.05323  dbSNP: rs7222126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243988 SCV000312140 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001516093 SCV001724309 benign Leber congenital amaurosis 4 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000086233 SCV001902153 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Retina International RCV000086233 SCV000118379 not provided not provided no assertion provided not provided

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