ClinVar Miner

Variants studied for ATR-X-related syndrome

Included ClinVar conditions (5):
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
53 37 526 1220 254 5 1975

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATRX 53 37 519 1216 252 4 1962
ATRX, LOC130068458 0 0 3 4 1 0 7
​intergenic 0 0 0 0 0 1 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
ATR 0 0 1 0 0 0 1
EPOR 0 0 0 0 1 0 1
GBA1, LOC106627981 0 0 1 0 0 0 1
HUWE1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 8 402 1182 253 0 1870
Natera, Inc. 1 0 98 55 13 0 167
Baylor Genetics 3 3 9 0 0 0 15
OMIM 14 0 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 1 0 9 2 1 0 13
Institute of Human Genetics, University of Leipzig Medical Center 3 2 4 2 1 0 12
3billion 5 1 2 0 0 0 8
New York Genome Center 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 5 0 2 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 5 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 0 1 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Mendelics 0 3 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 1 0 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 0 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1

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