ClinVar Miner

Submissions for variant NM_000481.3(AMT):c.125A>G (p.His42Arg) (rs121964983)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012756 SCV000032991 pathogenic Non-ketotic hyperglycinemia 1998-04-01 no assertion criteria provided literature only
GeneReviews RCV000012756 SCV000086789 pathologic Non-ketotic hyperglycinemia 2013-07-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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