ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1001del (p.Asn334fs) (rs759244819)

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Total submissions: 1
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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 RCV000234879 SCV000267591 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.117delG in an individual with congenital disorder of glycosylation type Ig.

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