ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) (rs386833550)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049478 SCV000081912 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.
GeneReviews RCV000049478 SCV000086736 pathologic Non-ketotic hyperglycinemia 2013-07-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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