Submissions for variant NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)

gnomAD frequency: 0.20662  dbSNP: rs2236654

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247088	SCV000308720	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247088	SCV000333321	benign	not specified	2015-07-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576600	SCV000373789	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	RCV000247088	SCV000539345	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: 19% of total chromosomes in ExAC
Athena Diagnostics	RCV000576600	SCV000677348	benign	Autosomal recessive distal spinal muscular atrophy 1	2017-04-14	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173354	SCV001336442	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514631	SCV001722525	benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001636771	SCV001852578	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001729490	SCV001977535	benign	Charcot-Marie-Tooth disease axonal type 2S	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001636771	SCV005321496	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000576600	SCV000733102	benign	Autosomal recessive distal spinal muscular atrophy 1		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000247088	SCV001924247	benign	not specified		no assertion criteria provided	clinical testing