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
49 16 30 7 42 1 140

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP21A2, LOC106780800 30 14 29 5 32 1 107
CYP21A2 16 1 1 0 2 0 19
POR 0 0 0 2 6 0 8
CYP21A2, LOC106780800, TNXB 3 0 0 0 1 0 4
CYP21A2, LOC106780800, LOC110631417 0 1 0 0 1 0 2

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Division of Human Genetics,Medical University Innsbruck 4 5 23 5 26 0 63
OMIM 27 0 0 0 0 0 27
GeneReviews 12 0 0 0 5 0 17
Mendelics 2 0 4 0 3 0 9
Counsyl 7 1 0 0 0 0 8
Myriad Women's Health, Inc. 8 0 0 0 0 0 8
Pecori Giraldi Lab,University of Milan 0 0 0 2 6 0 8
Fulgent Genetics,Fulgent Genetics 6 0 1 0 0 0 7
LifeCell International Pvt. Ltd 4 1 1 0 0 0 6
GenePathDx,Causeway Health Care Private Ltd 0 4 0 0 0 0 4
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 3 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 2 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 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
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
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 Clinical Services Laboratory,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
Institute of Human Genetics, University of Leipzig Medical Center 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
Nilou-Genome Lab 0 0 0 0 1 0 1

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