ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) (rs1805087)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126868 SCV000170397 benign not specified 2013-09-09 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 RCV000398009 SCV000356043 benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000015355 SCV000035614 risk factor Neural tube defects, folate-sensitive, susceptibility to 2003-09-01 no assertion criteria provided literature only
Department of Pharmacy and Biotechnology,University of Bologna RCV000144923 SCV000187680 uncertain significance Gastrointestinal stroma tumor no assertion criteria provided case-control

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