ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) (rs11208257)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419125 SCV000517631 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.
Illumina Clinical Services Laboratory,Illumina RCV000367456 SCV000358650 benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277905 SCV000358651 benign Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675306 SCV000800971 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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