ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1781G>A (p.Arg594Gln) (rs2274976)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174348 SCV000225634 other not provided 2017-01-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267830 SCV000347790 likely benign Neural tube defects, folate-sensitive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000433699 SCV000519510 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000433699 SCV000539721 benign not specified 2016-03-29 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: Frequency in ESP (all): 528/13006=4.05%
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000433699 SCV000604290 benign not specified 2018-07-16 criteria provided, single submitter clinical testing

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