ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)

dbSNP: rs373260156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000767844 SCV000898467 pathogenic Congenital disorder of glycosylation 2018-07-01 criteria provided, single submitter clinical testing Functional assays were performed to assess the functionality of the protein
OMIM RCV000850166 SCV000992364 pathogenic Congenital disorder of glycosylation, type ICC 2019-09-09 no assertion criteria provided literature only

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