ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1500C>T (p.Ile500=) (rs61737416)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000395325 SCV000358662 likely benign Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281994 SCV000358663 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000428999 SCV000517818 benign not specified 2016-05-11 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 RCV000395325 SCV000769541 benign Congenital disorder of glycosylation type 1t 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675309 SCV000800974 benign not provided 2017-10-16 no assertion criteria provided clinical testing

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