ClinVar Miner

Variants studied for adrenogenital syndrome

Included ClinVar conditions (13):
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
293 284 656 573 138 28 1779

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POR 55 22 192 391 30 1 640
CYP11B1, LOC106799833 44 77 59 26 12 6 188
CYP21A2, LOC106780800 46 43 54 10 30 10 168
CYP17A1 45 56 39 15 4 3 141
NR3C1 8 1 96 21 8 1 134
STAR 21 43 61 13 5 0 128
CYP11B1 12 17 57 16 19 2 114
HSD3B2 22 12 36 23 11 0 86
LOC126860075, POR 7 0 20 49 4 1 74
CYP21A2 15 7 1 0 2 0 22
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
CYP21A2, LOC106780800, LOC110631417 1 3 0 0 0 1 5
HSD11B1 2 0 1 0 2 0 5
CYP11A1 1 0 2 0 0 0 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: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 56 16 134 434 33 0 673
Illumina Laboratory Services, Illumina 3 2 395 43 52 0 495
Fulgent Genetics, Fulgent Genetics 35 27 41 56 2 0 161
Baylor Genetics 65 76 6 0 0 0 147
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 55 49 9 3 2 3 121
Natera, Inc. 29 8 26 31 10 0 104
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 2 0 0 33
Genome-Nilou Lab 1 0 3 3 22 0 29
Clinical Biochemistry Laboratory, Health Services Laboratory 12 11 5 0 0 0 28
Juno Genomics, Hangzhou Juno Genomics, Inc 10 9 2 0 0 0 21
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 2 0 1 2 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
Neuberg Centre For Genomic Medicine, NCGM 5 4 6 0 0 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
Molecular Endocrinology Laboratory, Christian Medical College 1 6 3 0 0 0 10
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 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
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 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
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
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 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
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
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Obstetrics & Gynecology, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 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
Department of Medical Genetics, Kayseri City Hospital 0 1 0 0 0 0 1

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