ClinVar Miner

Variants studied for intellectual disability-sparse hair-brachydactyly 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
34 28 89 27 73 2 244

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA2 33 27 88 27 73 2 241
ARID1B 1 0 0 0 0 0 1
CDKL5, RS1 0 1 0 0 0 0 1
LOC130001461, SMARCA2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 45 14 66 0 125
Baylor Genetics 5 3 9 0 0 0 16
OMIM 14 0 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 3 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 2 2 4 3 0 0 11
Fulgent Genetics, Fulgent Genetics 0 1 1 5 2 0 9
3billion 1 2 2 2 0 0 7
Genetic Services Laboratory, University of Chicago 2 3 0 0 0 0 5
Mendelics 1 1 1 1 1 0 5
New York Genome Center 0 0 5 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Institute of Human Genetics, University of Goettingen 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 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 0 2 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Autoinflammatory diseases unit, CHU de Montpellier 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 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 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Child and Adolescent Psychiatry Residency Program, Foundation for Education and Research in Health Sciences 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.