ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1464+14G>T (rs2269238)

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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 RCV000285149 SCV000358660 benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335537 SCV000358661 benign Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000429359 SCV000517632 benign not specified 2015-12-02 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675308 SCV000800973 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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