ClinVar Miner

Variants studied for congenital adrenal hyperplasia

Included ClinVar conditions (9):
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
244 253 540 546 122 27 1555

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POR 46 21 192 389 30 1 629
CYP11B1, LOC106799833 42 71 59 25 12 6 182
CYP21A2, LOC106780800 41 39 50 10 30 10 159
CYP17A1 36 46 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 10 3 1 0 2 0 14
HSD3B2, LOC109029530 4 1 3 3 0 0 9
LOC129998680, POR 0 0 8 0 1 0 9
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 1 0 0 0 1 3
POR, TMEM120A 0 0 3 0 0 0 3
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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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 1 297 21 46 0 368
Fulgent Genetics, Fulgent Genetics 35 27 40 51 2 0 155
Baylor Genetics 51 64 2 0 0 0 117
Natera, Inc. 29 8 26 31 10 0 104
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 38 38 9 3 2 3 93
Counsyl 17 48 24 0 0 0 89
OMIM 72 0 0 0 0 0 72
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
Clinical Biochemistry Laboratory, Health Services Laboratory 12 11 5 0 0 0 28
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
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 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
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
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
Centogene AG - the Rare Disease Company 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
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

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