ClinVar Miner

Variants studied for hemoglobinuria

Included ClinVar conditions (6):
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 risk factor total
13 11 10 2 4 3 43

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
PIGA 12 11 5 1 0 0 29
PIGT 0 0 5 1 4 3 13
LOC110806306 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
OMIM 10 0 0 0 0 1 11
Pangenia Genomics, Pangenia Inc. 0 5 2 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 2 2
Baylor Genetics 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 1
Gastroenterology Department, Qilu Hospital of Shandong University 0 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1

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