Variants studied for combined immunodeficiency with skin granulomas

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
175	67	399	466	28	1	1106

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
RAG1	106	22	251	278	20	0	667
RAG2	68	45	148	188	8	1	438
IFTAP, RAG1, RAG2	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	165	40	388	463	28	0	1084
Baylor Genetics	13	19	2	0	0	0	34
Fulgent Genetics, Fulgent Genetics	4	5	11	1	0	0	21
OMIM	8	0	0	0	0	0	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	1	4	1	0	0	7
Genome-Nilou Lab	0	0	4	0	2	0	6
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer	0	3	1	0	0	0	4
Counsyl	0	1	1	1	0	0	3
Mendelics	3	0	0	0	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	1	2	0	0	0	3
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University	2	0	0	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1
3billion	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.