ClinVar Miner

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

Included ClinVar conditions (3):
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
30 1 5 0 3 36

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
G6PD 28 1 5 3 34
CASK 1 0 0 0 1
G6PD, IKBKG 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 16 0 0 0 16
Invitae 9 0 4 3 16
Fulgent Genetics 7 0 0 0 7
Counsyl 5 0 0 0 5
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 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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