ClinVar Miner

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

Coded as:
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
42 6 2 0 6 1 56

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
CYP21A2, LOC106780800 22 5 1 5 1 33
CYP21A2 20 1 1 0 0 22
CYP21A2, LOC106780800, TNXB 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 27 0 0 0 0 27
GeneReviews 12 0 0 5 0 17
Counsyl 15 1 0 0 0 16
Fulgent Genetics 6 0 1 0 0 7
GenePathDx,Causeway Health Care Private Ltd 0 4 0 0 0 4
Athena Diagnostics Inc 0 0 0 2 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 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 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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