ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1368A>G (p.Ala456=)

gnomAD frequency: 0.82429  dbSNP: rs10064079
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082093 SCV000114039 benign not specified 2014-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082093 SCV000314008 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333305 SCV000458149 benign 3-methylcrotonyl-CoA carboxylase 2 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000333305 SCV001728984 benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000333305 SCV001745248 benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001636650 SCV001852453 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000333305 SCV002014117 benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000082093 SCV002050730 benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636650 SCV005301592 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082093 SCV001744502 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082093 SCV001954400 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000333305 SCV002084922 benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-11-16 no assertion criteria provided clinical testing

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