Variants studied for Congenital adrenal hyperplasia

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	not provided	total
49	49	17	3	3	3	124

Gene and significance breakdown #

Total genes and gene combinations: 13

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CYP11B1, LOC106799833	7	15	5	0	1	0	28
CYP17A1	11	7	2	0	0	0	20
CYP21A2, LOC106780800	6	9	2	1	0	0	18
HSD3B2	10	3	1	0	0	0	14
CYP11B1	2	4	1	2	1	2	12
CYP21A2	7	3	0	0	0	0	10
POR	4	6	0	0	0	0	10
STAR	0	0	3	0	1	0	4
CYP17A1, LOC110408762	0	0	2	0	0	0	2
CYP21A2, LOC106780800, TNXB	1	0	0	0	0	1	2
HSD3B2, LOC109029530	1	0	1	0	0	0	2
CYP11A1	0	1	0	0	0	0	1
CYP21A2, LOC106780800, LOC110631417	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	48	49	7	1	2	3	110
Illumina Laboratory Services, Illumina	0	0	10	2	1	0	13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	1	0	0	0	0	0	1

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