ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) (rs150171524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622676 SCV000741326 pathogenic Inborn genetic diseases 2016-01-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000666682 SCV000791016 uncertain significance Non-ketotic hyperglycinemia 2017-04-25 criteria provided, single submitter clinical testing
Mendelics RCV000666682 SCV001137745 pathogenic Non-ketotic hyperglycinemia 2019-05-28 criteria provided, single submitter clinical testing

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