Submissions for variant NM_052845.4(MMAB):c.56G>A (p.Arg19His)

gnomAD frequency: 0.31347  dbSNP: rs10774775

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247935	SCV000315237	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247935	SCV000331005	benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298750	SCV000375749	benign	Methylmalonic acidemia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000351606	SCV000483316	benign	Mevalonic aciduria	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389849	SCV000483317	benign	Hyperimmunoglobulin D with periodic fever	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000247935	SCV000539820	benign	not specified	2016-03-28	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: MAF
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000605966	SCV001159023	benign	Methylmalonic aciduria, cblB type	2023-11-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000605966	SCV001271767	benign	Methylmalonic aciduria, cblB type	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	RCV000605966	SCV001724477	benign	Methylmalonic aciduria, cblB type	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001668597	SCV001889782	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668597	SCV005237659	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605966	SCV000733129	benign	Methylmalonic aciduria, cblB type		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000605966	SCV001459245	benign	Methylmalonic aciduria, cblB type	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000247935	SCV001918751	benign	not specified		no assertion criteria provided	clinical testing