ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter)

dbSNP: rs1389373911
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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 RCV000824901 SCV000965822 pathogenic AICA-ribosiduria no assertion criteria provided clinical testing
OMIM RCV000824901 SCV001433863 pathogenic AICA-ribosiduria 2020-09-24 no assertion criteria provided literature only

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