Submissions for variant NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)

gnomAD frequency: 0.00506  dbSNP: rs117061430

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV004547633	SCV000308710	benign	IGHMBP2-related disorder	2023-04-27	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Eurofins Ntd Llc (ga)	RCV000254044	SCV000337956	benign	not specified	2015-12-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625146	SCV000373752	likely benign	Autosomal recessive distal spinal muscular atrophy 1	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000254044	SCV000513265	benign	not specified	2016-04-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV000513582	SCV000608600	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	IGHMBP2: BS2
Invitae	RCV001082951	SCV000642309	benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625146	SCV000743874	likely benign	Autosomal recessive distal spinal muscular atrophy 1	2016-03-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000513582	SCV001158411	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173578	SCV001336677	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000254044	SCV001924407	benign	not specified		no assertion criteria provided	clinical testing