ClinVar Miner

Variants studied for Pelizaeus-Merzbacher-like disease

Included ClinVar conditions (6):
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
29 35 27 3 1 5 92

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GJC2 20 33 17 1 0 3 66
AIMP1 5 0 4 0 0 2 11
HSPD1 1 1 6 2 1 0 11
SNAP29 2 0 0 0 0 0 2
GCDH 1 0 0 0 0 0 1
POLR3A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 4 20 4 0 0 0 28
OMIM 13 0 0 0 0 0 13
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 6 0 0 0 7
Baylor Genetics 1 0 4 0 0 0 5
Mendelics 1 3 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 1 0 0 0 4
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 3 0 0 0 0 4
3billion 2 0 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 2 1 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital 0 1 0 0 0 0 1
Pediatric Neurology, Rutgers New Jersey Medical School 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Medical Genetics Research Center of Genome 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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