ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) (rs8069375)

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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 RCV000393732 SCV000332799 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300344 SCV000405614 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350541 SCV000405615 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395155 SCV000405616 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000642440 SCV000764119 benign Leber congenital amaurosis 4 2017-08-25 criteria provided, single submitter clinical testing
Retina International RCV000086224 SCV000118369 not provided not provided no assertion provided not provided

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