ClinVar Miner

Variants studied for adrenogenital syndrome

Included ClinVar conditions (12):
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
263 256 652 571 138 28 1727

Gene and significance breakdown #

Total genes and gene combinations: 25
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POR 47 21 192 390 30 1 631
CYP11B1, LOC106799833 42 71 59 25 12 6 182
CYP21A2, LOC106780800 41 39 52 10 30 10 159
NR3C1 8 1 96 21 8 1 134
CYP17A1 36 47 38 15 4 3 126
STAR 20 42 60 13 5 0 126
CYP11B1 11 16 57 16 19 2 112
HSD3B2 22 11 36 23 11 0 85
LOC126860075, POR 7 0 20 49 4 1 74
CYP21A2 11 4 1 0 2 0 16
H6PD 5 0 3 2 6 0 16
HSD3B2, LOC109029530 4 1 3 3 0 0 9
LOC129998680, POR 0 0 8 0 1 0 9
LOC129994924, NR3C1 0 0 7 0 0 0 7
CYP17A1, LOC110408762 0 0 5 0 1 0 6
CYP21A2, LOC106780800, TNXB 3 0 1 0 3 3 6
LOC108863620, STAR 0 0 5 1 0 0 6
CYP11B1, LOC110673972 1 2 1 2 0 0 5
HSD11B1 2 0 1 0 2 0 5
CYP11A1 1 0 2 0 0 0 3
CYP21A2, LOC106780800, LOC110631417 1 1 0 0 0 1 3
POR, TMEM120A 0 0 3 0 0 0 3
LOC129994918, NR3C1 0 0 1 1 0 0 2
CYP11B1, CYP11B2, LOC106799833, LOC106799834, LOC110673972 1 0 0 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 49 16 134 434 33 0 666
Illumina Laboratory Services, Illumina 3 1 396 43 52 0 495
Fulgent Genetics, Fulgent Genetics 35 27 41 56 2 0 161
Baylor Genetics 51 64 5 0 0 0 120
Natera, Inc. 29 8 26 31 10 0 104
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 40 39 9 3 2 3 96
OMIM 88 0 2 0 0 0 90
Counsyl 17 48 24 0 0 0 89
Institute of Human Genetics, Medical University Innsbruck 4 5 23 5 26 0 63
Myriad Genetics, Inc. 9 29 1 0 0 0 39
3billion 17 8 6 1 0 0 32
Genome-Nilou Lab 1 0 3 3 22 0 29
Clinical Biochemistry Laboratory, Health Services Laboratory 12 11 5 0 0 0 28
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 5 14 0 0 0 20
GeneReviews 4 0 0 0 0 14 18
Revvity Omics, Revvity 6 6 4 0 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 5 5 1 0 0 16
Mendelics 6 0 3 0 6 0 15
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 5 0 8 0 0 0 13
Lifecell International Pvt. Ltd 6 3 1 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 3 4 0 0 0 10
Molecular Endocrinology Laboratory, Christian Medical College 1 6 3 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 0 0 1 0 8
Pecori Giraldi Lab, University of Milan 0 0 0 2 6 0 8
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 6 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 0 0 0 0 4
MGZ Medical Genetics Center 3 0 1 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 2 1 0 0 0 4
GenePathDx, GenePath diagnostics 0 4 0 0 0 0 4
DASA 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Internal Medicine, University of Pretoria 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1
Obstetrics & Gynecology, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Institute Of Endocrinology, Diabetes, Thyroid & Osteoporosis Disorders, Sakra World Hospital, Unit Of Thakshasila Hospital Operating Private Limited 0 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.