ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.117del (p.Gln40fs) (rs761221480)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234907 SCV000267592 pathogenic ALG12-congenital disorder of glycosylation 2014-04-01 criteria provided, single submitter clinical testing This variant was found in trans with pathogenic variant NM_024105.3:c.1001delA in an individual with congenital disorder of glycosylation type Ig.
OMIM RCV000234907 SCV001259212 pathogenic ALG12-congenital disorder of glycosylation 2020-05-21 no assertion criteria provided literature only

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