ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) (rs386833556)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000049484 SCV000845322 uncertain significance Non-ketotic hyperglycinemia 2018-08-07 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049484 SCV000081918 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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