ClinVar Miner

Variants studied for Progressive sclerosing poliodystrophy

Coded as:
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
223 170 1092 1061 81 2502

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLG 165 116 786 770 54 1779
POLG, POLGARF 54 52 268 242 19 623
FANCI, POLG 3 0 36 32 6 76
MIR6766, POLG 0 0 0 14 1 15
MIR6766, POLG, POLGARF 0 1 0 2 0 3
FANCI, POLG, POLGARF 0 1 0 1 0 2
LOC130057874, MIR6766, POLG, POLGARF 0 0 1 0 0 1
POLG, POLG-DT 0 0 0 0 1 1
POLG, RLBP1 1 0 0 0 0 1
POLRMT 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 168 67 1058 977 53 2323
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 73 39 85 157 53 407
Baylor Genetics 53 74 13 0 0 140
Mendelics 4 0 2 3 3 12
OMIM 6 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 3 0 0 6
MGZ Medical Genetics Center 3 1 1 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 3 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 0 3
3billion 2 0 1 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 1 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 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.