ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=)

gnomAD frequency: 0.00005  dbSNP: rs374950193
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595184 SCV000701986 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV001397063 SCV001598803 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431746 SCV002743388 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000595184 SCV005042528 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing IGHMBP2: BP4, BP7

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.