ClinVar Miner

Variants studied for ATR-X-related syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
62 61 742 1310 273 5 2294

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATRX 61 60 731 1305 271 4 2275
ATRX, LOC130068458 0 0 4 5 1 0 9
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 2 0 0 0 3
​intergenic 0 0 0 0 0 1 1
ALPL 0 1 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATR 0 0 1 0 0 0 1
ATRX, MAGT1 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: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 9 508 1265 272 0 2085
Natera, Inc. 3 11 189 57 13 0 273
3billion 6 1 11 4 0 0 22
Fulgent Genetics, Fulgent Genetics 1 4 13 2 1 0 21
Baylor Genetics 3 3 9 0 0 0 15
OMIM 15 0 0 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 3 3 5 2 1 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 6 1 1 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 0 0 0 0 10
New York Genome Center 0 0 8 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 2 0 0 7
Genome-Nilou Lab 0 0 5 0 2 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 3 0 1 0 6
MVZ Martinsried, Medicover Genetics 0 5 1 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 3 0 0 0 4
MGZ Medical Genetics Center 0 1 3 0 0 0 4
Mendelics 0 3 1 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 1 3 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 0 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 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
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Zero Childhood Cancer Program, Children's Cancer Institute 0 1 0 0 0 0 1

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