ClinVar Miner

Variants studied for Beck-Fahrner syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
12 15 58 3 3 89

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TET3 12 15 58 3 3 89

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 11 0 0 12
New York Genome Center 0 0 10 0 0 10
OMIM 9 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 5
Illumina Laboratory Services, Illumina 0 0 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 3 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 1 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Baylor Genetics 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 2
3billion, Medical Genetics 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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