ClinVar Miner

Variants studied for Pontocerebellar hypoplasia type 1B

Coded as:
Minimum submission review status: Collection method:
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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
30 14 68 113 11 2 220

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EXOSC3 28 13 65 104 10 2 204
EXOSC3, LOC130001814 2 0 3 9 1 0 15
VRK1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 26 3 39 109 7 0 184
Illumina Laboratory Services, Illumina 1 1 28 4 7 0 41
OMIM 7 0 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 2 3 2 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Revvity Omics, Revvity 3 0 1 0 0 0 4
GeneReviews 1 0 0 0 0 2 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Clinical Genetics, University of Leipzig 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 0 0 0 0 0 1

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