ClinVar Miner

Variants studied for combined immunodeficiency due to STIM1 deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
18 7 357 234 31 2 642

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 17 7 284 211 29 2 543
LOC124418421, STIM1 0 0 69 21 2 0 92
LOC130005165, STIM1 0 0 3 2 0 0 5
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 1
PGAP2, RHOG, STIM1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 7 348 233 30 0 632
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
Fulgent Genetics, Fulgent Genetics 0 0 4 1 0 0 5
New York Genome Center 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
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 1 0 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.