ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.870A>G (p.Val290=)

gnomAD frequency: 0.73313  dbSNP: rs10788546
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243664 SCV000304211 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243664 SCV000341521 benign not specified 2016-04-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289020 SCV000365364 benign Hepatic methionine adenosyltransferase deficiency 2018-01-13 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.
Invitae RCV000289020 SCV001721747 benign Hepatic methionine adenosyltransferase deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001658177 SCV001871881 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000243664 SCV001742436 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000243664 SCV001955721 benign not specified no assertion criteria provided clinical testing

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