ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) (rs1801131)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000153515 SCV000604289 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Department of Pharmacy and Biotechnology,University of Bologna RCV000144922 SCV000187679 uncertain significance Gastrointestinal stroma tumor no assertion criteria provided case-control
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153515 SCV000203039 other not provided 2017-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000430863 SCV000519507 benign not specified 2016-04-25 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 RCV000350590 SCV000347797 likely benign Neural tube defects, folate-sensitive 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000003698 SCV000023861 benign MTHFR deficiency, thermolabile type 2008-07-01 no assertion criteria provided literature only
OMIM RCV000003699 SCV000023862 risk factor Schizophrenia, susceptibility to 2008-07-01 no assertion criteria provided literature only

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