ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) (rs121907932)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000003604 SCV000807228 pathogenic ALG12-congenital disorder of glycosylation 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and has been found once in our laboratory in trans with a deleterious frameshift mutation in a fetus with cystic hygroma, VSD, diaphragmatic hernia, brain malformations, and micrognathia; a previous fetus was similarly affected (not tested).
OMIM RCV000003604 SCV000023762 pathogenic ALG12-congenital disorder of glycosylation 2007-06-15 no assertion criteria provided literature only

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