ClinVar Miner

Variants studied for Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
42 2 23 5 9 69

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
G6PD 40 2 22 5 8 66
G6PD, IKBKG 2 0 1 0 1 3

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 20 0 14 5 9 48
OMIM 16 0 0 0 0 16
Mendelics 8 0 8 0 0 16
Counsyl 5 0 0 0 0 5
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 2
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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