ClinVar Miner

Variants studied for complete androgen insensitivity 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 total
183 60 95 256 128 704

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AR 166 60 89 243 110 652
AR, LOC109504725 17 0 5 13 18 51
CDC45 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 45
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 107 20 77 250 124 578
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 37 0 5 0 0 42
OMIM 30 0 0 0 0 30
Fulgent Genetics, Fulgent Genetics 1 0 4 6 1 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 0 0 0 11
3billion 2 6 1 0 0 9
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 7 2 0 0 0 9
Genetics Department, Polish Mother's Memorial Hospital Research Institute 6 2 0 0 0 8
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 1 1 0 0 7
Clinical Biochemistry Laboratory, Health Services Laboratory 1 4 0 1 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 3 1 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 5
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 4 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 5
Human Developmental Genetics, Institut Pasteur 5 0 0 0 0 5
Mendelics 0 0 1 0 3 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 3
Baylor Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
GeneReviews 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Department of Medical Genetics, Hue University of Medicine and Pharmacy 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Reproductive and Stem Cell Engineering, Central South University 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine 1 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 0 0 1
Family Health Institute, Tehran University of Medical Sciences 1 0 0 0 0 1
Department of Obstetrics and Gynaecology, The Second Hospital of Hebei Medical University 0 1 0 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.