ClinVar Miner

Variants in gene combination HBB, LOC106099062, LOC107133510, LOC110006319

See also:
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 other total
12 3 4 1 1 19 33

Condition and significance breakdown #

Total conditions: 29
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
not specified 1 0 4 1 1 0 7
Erythrocytosis 6, familial 5 0 0 0 0 0 5
not provided 3 1 1 0 0 0 5
beta Thalassemia 1 2 1 0 0 0 4
Beta-thalassemia intermedia, dominant 1 0 0 0 0 0 1
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis 6, familial 1 0 0 0 0 0 1
HEMOGLOBIN ALBERTA 0 0 0 0 0 1 1
HEMOGLOBIN BETH ISRAEL 0 0 0 0 0 1 1
HEMOGLOBIN BRIGHAM 0 0 0 0 0 1 1
HEMOGLOBIN BRITISH COLUMBIA 0 0 0 0 0 1 1
HEMOGLOBIN CAMPERDOWN 0 0 0 0 0 1 1
HEMOGLOBIN CASABLANCA 0 0 0 0 0 1 1
HEMOGLOBIN CLEVELAND 0 0 0 0 0 1 1
HEMOGLOBIN D (AGRI) 0 0 0 0 0 1 1
HEMOGLOBIN DUINO 0 0 0 0 0 1 1
HEMOGLOBIN HEATHROW 0 0 0 0 0 1 1
HEMOGLOBIN NEW MEXICO 0 0 0 0 0 1 1
HEMOGLOBIN O (TIBESTI) 0 0 0 0 0 1 1
HEMOGLOBIN POTOMAC 0 0 0 0 0 1 1
HEMOGLOBIN RUSH 0 0 0 0 0 1 1
HEMOGLOBIN S (TRAVIS) 1 0 0 0 0 0 1
HEMOGLOBIN SAINT NAZAIRE 0 0 0 0 0 1 1
HEMOGLOBIN SHERWOOD FOREST 0 0 0 0 0 1 1
HEMOGLOBIN SPARTA 0 0 0 0 0 1 1
HEMOGLOBIN ST. MANDE 0 0 0 0 0 1 1
HEMOGLOBIN T (CAMBODIA) 0 0 0 0 0 1 1
Hb camperdown 1 0 0 0 0 0 1
Sickle cell-Hemoglobin O Arab disease 1 0 0 0 0 0 1
beta^0^ Thalassemia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
OMIM 10 0 0 0 1 19 25
Quest Diagnostics Nichols Institute San Juan Capistrano 2 1 3 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 1 1 0 0 0 3
Counsyl 1 1 0 0 0 0 2
Invitae 2 0 0 0 0 0 2
GeneDx 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
College of Science, Al Muthanna University,Al Muthanna University 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.