ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) (rs62635032)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193563 SCV000228837 benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193563 SCV000247493 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing
Mendelics RCV000990469 SCV001141470 likely benign Ocular albinism, type I 2019-05-28 criteria provided, single submitter clinical testing
Retina International RCV000084929 SCV000117065 not provided not provided no assertion provided not provided

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