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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	total
13	4	29	8	4	52

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	13	4	27	8	4	50
CYP11A1, LOC108964933	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	21	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
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

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