ClinVar Miner

Variants studied for demyelinating disease

Included ClinVar conditions (16):
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 not provided total
223 177 1116 1072 81 7 2526

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POLG, POLGARF 213 160 1075 1016 73 7 2395
FANCI, POLG, POLGARF 1 1 34 33 6 0 74
HNRNPA1 3 14 2 7 0 0 26
MIR6766, POLG, POLGARF 0 1 0 16 1 0 18
EDAR, RANBP2 1 1 0 0 0 0 2
FANCI, POLG 0 0 2 0 0 0 2
KIF5A 1 0 1 0 0 0 2
LOC130057874, MIR6766, POLG, POLGARF 0 0 1 0 0 0 1
LRCH2 1 0 0 0 0 0 1
NR1H3 1 0 0 0 0 0 1
POLG 1 0 0 0 0 0 1
POLG, POLG-DT 0 0 0 0 1 0 1
POLG, RLBP1 1 0 0 0 0 0 1
POLRMT 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 161 67 1058 977 53 0 2316
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 73 39 85 157 53 0 407
Baylor Genetics 48 62 13 0 0 0 122
Fulgent Genetics, Fulgent Genetics 9 3 68 10 3 0 93
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 3 14 2 7 0 0 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 11 1 0 0 14
Mendelics 4 0 2 3 3 0 12
OMIM 6 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 3 0 0 0 6
MGZ Medical Genetics Center 3 1 1 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 3 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Undiagnosed Diseases Network, NIH 2 0 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
3billion 2 0 1 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 1 1 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
MS Genetics Lab, University of British Columbia 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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