ClinVar Miner

Variants in gene CYP11A1

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Minimum submission review status: Collection method:
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Gene type:
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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 association total
35 24 111 229 29 1 399

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
not provided 25 10 12 222 27 0 291
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 16 17 80 8 4 0 120
Inborn genetic diseases 0 0 26 1 0 0 27
not specified 0 0 7 4 1 0 12
CYP11A1-related disorder 1 1 2 7 0 0 11
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 2 0 0 0 3
Congenital Adrenal Insufficiency 0 1 1 0 0 0 2
Congenital adrenal hyperplasia 0 1 0 0 0 0 1
Pulmonary disease, chronic obstructive, susceptibility to 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Labcorp Genetics (formerly Invitae), Labcorp 23 8 6 216 14 0 267
Fulgent Genetics, Fulgent Genetics 6 14 59 3 0 0 82
GeneDx 6 2 2 5 13 0 28
Illumina Laboratory Services, Illumina 0 0 19 6 3 0 28
Ambry Genetics 0 0 26 1 0 0 27
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 7 0 14
PreventionGenetics, part of Exact Sciences 1 1 2 7 0 0 11
OMIM 9 0 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 6 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 1 4 1 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 2 2 1 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 0 3
Revvity Omics, Revvity 1 0 1 0 0 0 2
Mendelics 1 0 1 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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