ClinVar Miner

Variants in gene PMPCB

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
5 6 71 43 18 135

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 1 29 37 18 84
Inborn genetic diseases 0 2 38 3 0 43
Multiple mitochondrial dysfunctions syndrome 6 5 4 12 1 1 22
PMPCB-related disorder 0 0 2 9 5 16
PMPCB-related ataxia 0 1 0 0 0 1
PMPCB-related mitochondrial disorder 0 1 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 1 21 35 13 70
Ambry Genetics 0 2 38 3 0 43
PreventionGenetics, part of Exact Sciences 0 0 2 9 5 16
GeneDx 0 0 6 0 9 15
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 9 9
OMIM 5 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
Baylor Genetics 0 0 3 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 3 0 3
New York Genome Center 0 1 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Tetreault Lab, University of Montreal Hospital Research Centre (CRCHUM) 0 1 0 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.