Submissions for variant NM_002180.3(IGHMBP2):c.-2C>T

gnomAD frequency: 0.18778  dbSNP: rs4930624

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251714	SCV000308707	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000251714	SCV000341552	benign	not specified	2016-04-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000613432	SCV000373749	benign	Autosomal recessive distal spinal muscular atrophy 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000251714	SCV000539340	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: 25% of total chromosomes in ExAC
Athena Diagnostics Inc	RCV000712266	SCV000842712	benign	not provided	2017-11-16	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172589	SCV001335652	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV000712266	SCV001942954	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001729487	SCV001977237	benign	Charcot-Marie-Tooth disease axonal type 2S	2021-08-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613432	SCV000733096	benign	Autosomal recessive distal spinal muscular atrophy 1		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000251714	SCV001925220	benign	not specified		no assertion criteria provided	clinical testing