ClinVar Miner

Variants studied for congenital nonspherocytic hemolytic anemia

Included ClinVar conditions (7):
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
70 14 99 34 20 219

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
G6PD 44 8 28 29 9 104
PKLR 15 5 54 4 4 79
GPI 8 1 6 0 5 20
HCN3, PKLR 0 0 9 0 1 10
G6PD, IKBKG 2 0 2 1 1 5
CASK 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 2 18 30 9 84
Illumina Clinical Services Laboratory,Illumina 2 1 58 4 4 69
OMIM 36 0 0 0 0 36
Mendelics 8 0 9 0 0 17
Fulgent Genetics,Fulgent Genetics 9 0 2 0 0 11
Baylor Genetics 4 0 5 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 0 5 9
LifeCell International Pvt. Ltd 8 1 0 0 0 9
Counsyl 5 0 0 0 0 5
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 0 3 2 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 2 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 0 1 0 0 0 1

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