ClinVar Miner

Variants studied for congenital nonspherocytic hemolytic anemia

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 total
55 8 45 0 7 110

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PKLR 14 4 31 3 51
G6PD 30 3 9 3 41
GPI 8 1 0 0 9
HCN3, PKLR 0 0 5 1 6
G6PD, IKBKG 2 0 0 0 2
CASK 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance benign total
Illumina Clinical Services Laboratory,Illumina 2 1 33 4 40
OMIM 36 0 0 0 36
Invitae 15 1 8 3 27
Fulgent Genetics,Fulgent Genetics 9 0 2 0 11
Counsyl 5 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 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 1 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 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
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 0 1 0 0 1

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