ClinVar Miner

Variants studied for Progressive sclerosing poliodystrophy

Coded as:
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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
216 159 1092 1061 81 2487

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLG, POLGARF 213 157 1054 1012 73 2388
FANCI, POLG, POLGARF 1 1 34 33 6 74
MIR6766, POLG, POLGARF 0 1 0 16 1 18
FANCI, POLG 0 0 2 0 0 2
LOC130057874, MIR6766, POLG, POLGARF 0 0 1 0 0 1
POLG 1 0 0 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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 161 67 1058 977 53 2316
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 73 39 85 157 53 407
Baylor Genetics 47 61 13 0 0 121
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
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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 0 1 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 1

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