ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.267C>T (p.Cys89=) (rs62653020)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000259077 SCV000113544 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404197 SCV000405633 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306547 SCV000405634 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345097 SCV000405635 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000081613 SCV000642111 benign not provided 2018-12-20 criteria provided, single submitter clinical testing
Retina International RCV000081613 SCV000118361 not provided not provided no assertion provided not provided

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