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

gnomAD frequency: 0.82429  dbSNP: rs10064079

Total submissions: 11

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.
Invitae	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
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