Variants studied for combined immunodeficiency due to STIM1 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
22	8	400	272	31	2	727

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
STIM1	21	8	321	246	29	2	620
LOC124418421, STIM1	0	0	74	24	2	0	99
LOC130005165, STIM1	0	0	3	2	0	0	5
PGAP2, RHOG, STIM1	0	0	2	0	0	0	2
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	18	8	388	270	30	0	714
Fulgent Genetics, Fulgent Genetics	0	0	5	1	0	0	6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	6	0	0	0	6
OMIM	5	0	0	0	0	0	5
New York Genome Center	0	0	4	0	0	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Baylor Genetics	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	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.