ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) (rs62637015)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179479 SCV000231734 benign not specified 2014-11-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394176 SCV000405573 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086236 SCV000883376 benign not provided 2017-07-30 criteria provided, single submitter clinical testing
Invitae RCV000086236 SCV001021769 benign not provided 2018-09-19 criteria provided, single submitter clinical testing
Mendelics RCV000989684 SCV001140219 likely benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086236 SCV001151181 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
GeneReviews RCV000055942 SCV000086967 pathologic Leber congenital amaurosis 4 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Retina International RCV000086236 SCV000118382 not provided not provided no assertion provided not provided

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