ClinVar Miner

Variants studied for Alpha thalassemia-X-linked intellectual disability syndrome

Coded as:
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
46 28 488 1217 253 4 1936

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATRX 46 27 483 1213 252 4 1926
ATRX, LOC130068458 0 0 3 4 1 0 7
ALPL 0 1 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
GBA1, LOC106627981 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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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
OMIM 14 0 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 2 1 0 10
Baylor Genetics 1 2 5 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 6 0 0 0 0 7
Genome-Nilou Lab 0 0 4 0 2 0 6
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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
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
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
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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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

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