ClinVar Miner

Variants studied for congenital adrenal hyperplasia

Included ClinVar conditions (10):
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
293 341 699 577 122 27 1851

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POR 62 38 197 412 30 1 681
CYP11B1, LOC106799833 44 89 111 28 12 6 252
CYP21A2, LOC106780800 48 46 59 10 30 10 176
STAR 25 53 92 13 5 0 170
CYP17A1 45 56 39 15 4 3 141
CYP11B1 12 20 77 16 19 2 135
HSD3B2 22 22 61 23 11 0 122
LOC126860075, POR 7 1 22 53 4 1 81
CYP21A2 16 6 1 0 2 0 22
HSD3B2, LOC109029530 5 2 8 3 0 0 16
CYP11B1, LOC110673972 1 4 6 3 0 0 13
LOC129998680, POR 0 0 8 0 1 0 9
LOC108863620, STAR 0 1 5 1 0 0 7
CYP17A1, LOC110408762 0 0 5 0 1 0 6
CYP21A2, LOC106780800, TNXB 3 0 1 0 3 3 6
CYP21A2, LOC106780800, LOC110631417 1 3 0 0 0 1 5
CYP11A1 1 0 2 0 0 0 3
POR, TMEM120A 0 0 3 0 0 0 3
CYP11B1, CYP11B2, LOC106799833, LOC106799834, LOC110673972 1 0 0 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 0 0 1
MSH2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 61 16 141 459 33 0 710
Fulgent Genetics, Fulgent Genetics 56 99 182 54 2 0 393
Illumina Laboratory Services, Illumina 3 2 296 21 46 0 368
Baylor Genetics 65 76 3 0 0 0 144
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 58 48 9 3 2 3 123
Natera, Inc. 29 8 26 31 10 0 104
Counsyl 17 48 24 0 0 0 89
OMIM 73 0 0 0 0 0 73
Institute of Human Genetics, Medical University Innsbruck 4 5 23 5 26 0 63
Myriad Genetics, Inc. 9 29 1 0 0 0 39
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 10 10 11 1 1 0 33
3billion, Medical Genetics 17 8 6 2 0 0 33
Clinical Biochemistry Laboratory, Health Services Laboratory 12 11 5 0 0 0 28
Juno Genomics, Hangzhou Juno Genomics, Inc 12 9 2 0 0 0 23
Genome-Nilou Lab 1 0 3 3 16 0 23
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 2 0 1 2 0 16
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
Revvity Omics, Revvity 5 5 2 0 0 0 12
Mendelics 6 0 3 0 3 0 12
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
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
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 0 1 0 0 0 4
DASA 4 0 0 0 0 0 4
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
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
Department of Obstetrics and Gynecology, Sichuan Jinxin Women and Children's Hospital 0 2 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Internal Medicine, University of Pretoria 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
New York Genome Center 1 0 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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