Submissions for variant NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) (rs17612126)

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000174725	SCV000226086	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000174725	SCV000308727	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000576485	SCV000373802	benign	Spinal muscular atrophy, distal, autosomal recessive, 1	2018-03-06	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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000174725	SCV000539346	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	RCV000576485	SCV000677350	benign	Spinal muscular atrophy, distal, autosomal recessive, 1	2017-04-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001282638	SCV000885599	benign	none provided	2020-08-24	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173355	SCV001336443	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Invitae	RCV001519188	SCV001728013	benign	Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S	2020-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001711595	SCV001942972	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24022109, 11528396, 20981092, 20220177, 16458836, 21228398, 15797190)
Inherited Neuropathy Consortium	RCV000789356	SCV000928710	uncertain significance	Autosomal dominant distal hereditary motor neuropathy		no assertion criteria provided	literature only
Clinical Genetics,Academic Medical Center	RCV000174725	SCV001922376	benign	not specified		no assertion criteria provided	clinical testing
Human Genetics - Radboudumc,Radboudumc	RCV000174725	SCV001954672	benign	not specified		no assertion criteria provided	clinical testing