ClinVar Miner

Variants studied for ATR-X-related syndrome

Included ClinVar conditions (6):
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
35 16 235 195 84 3 546

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 not provided total
ATRX 35 16 234 195 83 2 543
​intergenic 0 0 0 0 0 1 1
ATR 0 0 1 0 0 0 1
EPOR 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 1 186 187 83 0 468
Natera, Inc. 1 0 28 12 9 0 50
OMIM 14 0 0 0 0 0 14
Baylor Genetics 3 2 8 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 2 1 0 10
Fulgent Genetics,Fulgent Genetics 1 0 4 0 0 0 5
Mendelics 0 3 1 0 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 1 0 3
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 2
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
GeneReviews 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,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 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
New York Genome Center 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 1
Shieh Lab,University of California, San Francisco 0 0 1 0 0 0 1

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