ClinVar Miner

Variants in gene combination CYP21A2, LOC106780800, TNXB

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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
3 0 1 5 4 3 9

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic uncertain significance likely benign benign not provided total
not provided 2 1 5 2 0 8
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 3 1 0 3 3 6
CYP21A2-related condition 2 0 0 0 0 2
Congenital adrenal hyperplasia 1 0 0 0 1 2
not specified 0 0 0 2 0 2
21-HYDROXYLASE POLYMORPHISM 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 0 3 2 0 5
OMIM 3 0 0 1 0 4
Athena Diagnostics Inc 2 0 1 1 0 4
PreventionGenetics, part of Exact Sciences 2 0 0 2 0 4
GeneReviews 0 0 0 0 3 3
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1 2
Invitae 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 1 1 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 1 0 2
Myriad Genetics, Inc. 2 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 2
3billion 2 0 0 0 0 2
DASA 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 0 1 0 1
Mendelics 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1

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