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:

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
52 44 686 1301 272 4 2228

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATRX 51 43 677 1296 271 4 2212
ATRX, LOC130068458 0 0 4 5 1 0 9
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 2 0 0 0 3
ALPL 0 1 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATRX, MAGT1 0 0 1 0 0 0 1
GBA1, LOC106627981 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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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
OMIM 15 0 0 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 2 1 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 0 0 0 0 10
Baylor Genetics 1 2 5 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 4 1 0 0 7
Genome-Nilou Lab 0 0 4 0 2 0 6
3billion 1 0 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 4
MVZ Martinsried, Medicover Genetics 0 3 1 0 0 0 4
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 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
GeneReviews 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 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
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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
New York Genome Center 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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