Variants studied for Immunodeficiency 47

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
10	5	13	2	1	28

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ATP6AP1	10	5	13	2	1	28

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	10	0	0	0	0	10
Revvity Omics, Revvity	0	0	5	0	0	5
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	0	3
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona	1	1	0	0	0	2
3billion	0	0	1	1	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	1	0	0	0	1
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	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.