ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1144+10A>G (rs886046482)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342378 SCV000358644 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402379 SCV000358645 uncertain significance Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000606435 SCV000725438 likely benign not specified 2017-11-30 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.

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