ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) (rs201556985)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725737 SCV000339058 uncertain significance not provided 2016-01-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360849 SCV000399667 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000340676 SCV000732794 likely benign not specified 2017-07-10 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 RCV000725737 SCV001014680 benign not provided 2019-02-11 criteria provided, single submitter clinical testing

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