ClinVar Miner

Variants studied for G6PD deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
134 202 202 308 37 2 776

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
G6PD 127 193 171 298 32 2 716
G6PD, IKBKG 3 7 25 9 2 0 44
G6PD, IKBKG, LOC107181288 1 0 2 0 1 0 4
CASK 1 1 0 1 0 0 3
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 1 0 0 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC130068881 0 0 1 0 0 0 1
GFI1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 54 21 131 294 21 0 521
Dunham Lab, University of Washington 102 152 24 10 14 0 302
Revvity Omics, Revvity 16 23 24 0 0 0 63
Illumina Laboratory Services, Illumina 11 1 28 5 0 0 45
Mendelics 29 1 2 0 0 0 32
Fulgent Genetics, Fulgent Genetics 15 10 0 1 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 4 0 0 0 0 24
OMIM 20 0 0 0 2 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 1 3 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 9 2 0 0 0 15
Variantyx, Inc. 9 5 0 0 0 0 14
3billion 7 4 2 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 8 0 2 0 1 0 11
Lifecell International Pvt. Ltd 8 2 1 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 6 3 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 8 0 1 0 0 0 9
Baylor Genetics 6 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 3 2 1 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 6
Counsyl 5 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 0 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 3 1 0 0 0 0 4
Department of Genetics, Sultan Qaboos University Hospital 3 0 0 0 1 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 0 0 0 0 0 4
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 3 1 0 0 0 0 4
Intergen Genetics and Rare Diseases Diagnosis Center 4 0 0 0 0 0 4
MGZ Medical Genetics Center 4 0 0 0 0 0 4
New York Genome Center 3 0 1 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 3 0 0 0 1 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 0 1 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 2 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 1 0 0 0 0 1
Institute for Human Genetics, University Hospital Essen 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Precision Medicine Lab Center, Yangjiang People's Hospital 1 0 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 1 0 0 0 0 0 1
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1

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