ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) (rs1575116846)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824900 SCV000965821 uncertain significance AICAR transformylase/IMP cyclohydrolase deficiency 2016-01-04 criteria provided, single submitter clinical testing
OMIM RCV000824900 SCV001433862 pathogenic AICAR transformylase/IMP cyclohydrolase deficiency 2020-09-24 no assertion criteria provided literature only

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