ClinVar Miner

Variants studied for Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

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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
10 24 42 1 7 79

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLR2A 9 20 38 1 7 71
LOC126862482, POLR2A 1 1 3 0 0 4
LOC126862481, POLR2A 0 2 1 0 0 3
PUF60 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 8 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 7
Genome-Nilou Lab 0 0 0 0 7 7
OMIM 5 0 0 0 0 5
Revvity Omics, Revvity 0 1 4 0 0 5
New York Genome Center 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 4
3billion, Medical Genetics 0 1 2 1 0 4
Baylor Genetics 0 0 3 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1

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