Variants studied for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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	not provided	total
66	18	230	462	35	2	758

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
POR	59	18	197	410	30	1	667
LOC126860075, POR	7	0	22	52	4	1	79
LOC129998680, POR	0	0	8	0	1	0	9
POR, TMEM120A	0	0	3	0	0	0	3

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	61	16	141	459	33	0	710
Illumina Laboratory Services, Illumina	0	1	110	2	9	0	122
OMIM	6	0	0	0	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	1	0	3
GeneReviews	0	0	0	0	0	2	2
Baylor Genetics	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	0	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Obstetrics & Gynecology, Peking Union Medical College Hospital	1	0	0	0	0	0	1

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