ClinVar Miner

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

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Total submissions: 5
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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 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000126868 SCV001156941 benign not specified 2018-07-12 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 stromal tumor no assertion criteria provided case-control

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