ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.399T>C (p.Ile133=) (rs1126727)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000292719 SCV000358620 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349872 SCV000358621 likely benign Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000430218 SCV000520692 benign not specified 2016-02-16 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 RCV000349872 SCV000769545 benign Congenital disorder of glycosylation type 1t 2019-12-31 criteria provided, single submitter clinical testing

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