ClinVar Miner

Submissions for variant NM_002435.3(MPI):c.1131A>G (p.Val377=) (rs1130741)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603719 SCV000733475 benign Congenital disorder of glycosylation type 1B no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080011 SCV000111904 benign not specified 2012-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000080011 SCV000517616 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 RCV000328204 SCV000393953 benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080011 SCV000539670 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 44% of total chromosomes in ExAC
PreventionGenetics RCV000080011 SCV000308879 benign not specified criteria provided, single submitter clinical testing

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