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
56 37 55 9 41 14 187

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP21A2, LOC106780800 40 33 50 7 30 10 151
CYP21A2 10 2 1 0 2 0 13
POR 0 0 0 1 6 0 7
CYP21A2, LOC106780800, TNXB 3 0 1 0 3 3 6
CYP11A1 1 0 2 0 0 0 3
CYP21A2, LOC106780800, LOC110631417 1 1 0 0 0 1 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

Submitter and significance breakdown #

Total submitters: 49
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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
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 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 5 5 0 0 0 13
Mendelics 6 0 3 0 3 0 12
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
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
DASA 4 0 0 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
Neuberg Centre For Genomic Medicine, NCGM 2 1 0 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 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
Athena Diagnostics Inc 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
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
Genomics England Pilot Project, Genomics England 0 1 0 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

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