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
32 3 9 0 3 43

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
G6PD 30 3 9 3 41
G6PD, IKBKG 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance benign total
Invitae 15 1 8 3 27
OMIM 16 0 0 0 16
Counsyl 5 0 0 0 5
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 1

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