ClinVar Miner

Variants in gene EGLN1

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 affects total
4 0 69 48 24 1 141

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign affects total
Familial erythrocytosis 0 55 40 18 0 113
Erythrocytosis, familial, 3 4 15 6 6 0 31
Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation 0 1 0 0 0 1
Hemoglobin, high altitude adaptation 0 0 0 0 1 1
Inborn genetic diseases 0 0 1 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign affects total
Illumina Clinical Services Laboratory,Illumina 0 55 40 18 0 113
Invitae 1 15 6 6 0 28
OMIM 3 0 0 0 1 4
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Ambry Genetics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 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.