ClinVar Miner

Variants studied for anemia, nonspherocytic hemolytic, due to G6PD 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 total
47 8 30 30 10 110

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 total
G6PD 44 8 28 29 9 104
G6PD, IKBKG 2 0 2 1 1 5
CASK 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 2 18 30 9 84
OMIM 16 0 0 0 0 16
Mendelics 8 0 8 0 0 16
LifeCell International Pvt. Ltd 8 1 0 0 0 9
Fulgent Genetics,Fulgent Genetics 7 0 0 0 0 7
Counsyl 5 0 0 0 0 5
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 0 3 2 0 0 5
Baylor Genetics 4 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 0 0 0 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 1 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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