ClinVar Miner

Variants studied for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Included ClinVar conditions (1):
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
62 48 63 9 41 14 205

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP21A2, LOC106780800 46 41 57 7 30 10 166
CYP21A2 10 3 1 0 2 0 13
POR 0 0 0 1 6 0 7
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
CYP17A1 1 1 0 0 0 0 2
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 0 0 1
LOC126860075, POR 0 0 0 1 0 0 1
MSH2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Institute of Human Genetics, Medical University Innsbruck 4 5 23 5 26 0 63
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 10 11 0 1 0 29
OMIM 27 0 0 0 0 0 27
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 5 14 0 0 0 20
3billion, Medical Genetics 9 5 4 1 0 0 19
Fulgent Genetics, Fulgent Genetics 9 2 5 1 0 0 17
GeneReviews 4 0 0 0 0 12 16
Juno Genomics, Hangzhou Juno Genomics, Inc 8 7 1 0 0 0 16
Mendelics 6 0 3 0 3 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 0 0 0 0 10
Lifecell International Pvt. Ltd 5 3 1 0 0 0 9
Counsyl 7 1 0 0 0 0 8
Myriad Genetics, Inc. 8 0 0 0 0 0 8
Pecori Giraldi Lab, University of Milan 0 0 0 2 6 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 0 1 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Molecular Endocrinology Laboratory, Christian Medical College 0 3 2 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 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
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 3 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 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
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 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
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
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University 2 0 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
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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 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
GenomeConnect, ClinGen 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
New York Genome Center 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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