ClinVar Miner

Variants studied for Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Included ClinVar conditions (1):
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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 total
14 5 29 8 4 55

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CYP11A1 14 5 27 8 4 53
CYP11A1, LOC108964933 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 20 6 3 30
Fulgent Genetics, Fulgent Genetics 3 2 6 3 0 14
OMIM 9 0 0 0 0 9
Revvity Omics, Revvity 1 0 1 0 0 2
Mendelics 1 0 1 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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