ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) (rs121964974)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000012762 SCV000086735 pathologic Non-ketotic hyperglycinemia 2013-07-11 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000012762 SCV000032997 pathogenic Non-ketotic hyperglycinemia 1992-07-01 no assertion criteria provided literature only

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