ClinVar Miner

Variants in gene combination IGHMBP2, LOC126861245

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
4 5 25 34 10 66

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 3 1 15 25 5 49
not provided 2 1 9 8 8 24
Inborn genetic diseases 1 0 7 5 0 13
Charcot-Marie-Tooth disease 0 0 3 5 2 10
Autosomal recessive distal spinal muscular atrophy 1 1 3 2 0 2 8
not specified 0 0 0 3 3 5
Charcot-Marie-Tooth disease axonal type 2S 2 1 1 0 1 4
Neuronopathy, distal hereditary motor, autosomal dominant 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 4 0 0 1 0 0 1
IGHMBP2-related disorder 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 15 25 5 49
GeneDx 2 0 4 8 8 22
Ambry Genetics 1 0 7 5 0 13
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 2 5 2 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 4 6
PreventionGenetics, part of Exact Sciences 0 0 0 2 2 4
Illumina Laboratory Services, Illumina 0 0 2 0 2 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 3
Eurofins Ntd Llc (ga) 0 0 2 0 1 3
CeGaT Center for Human Genetics Tuebingen 0 1 1 1 0 3
Inherited Neuropathy Consortium 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Athena Diagnostics 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Revvity Omics, Revvity 0 0 1 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 1
Mendelics 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants 0 1 0 0 0 1
Genesis Genome Database 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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.