ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) (rs181657861)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000390927 SCV000341950 benign not specified 2016-06-23 criteria provided, single submitter clinical testing
GeneDx RCV001718585 SCV000513267 benign not provided 2021-06-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31372974, 29653221, 20031928, 26922252, 26136520, 28202949, 31180159, 30076350)
Invitae RCV000534317 SCV000642360 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001111836 SCV001269438 benign Spinal muscular atrophy, distal, autosomal recessive, 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174199 SCV001337325 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.