ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp)

gnomAD frequency: 0.02517  dbSNP: rs13405869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432601 SCV000520675 benign not specified 2016-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000553083 SCV000641218 benign MOGS-congenital disorder of glycosylation 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000553083 SCV002505985 benign MOGS-congenital disorder of glycosylation 2023-11-22 criteria provided, single submitter clinical testing

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