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 established risk allele not provided total
169 225 238 271 51 1 2 866

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
G6PD 120 180 109 249 34 1 2 618
PKLR 23 24 65 4 4 0 0 114
GPI 20 11 38 8 6 0 0 76
G6PD, IKBKG 2 7 14 9 3 0 0 34
HCN3, PKLR 0 0 9 0 1 0 0 10
CASK 1 1 0 1 0 0 0 3
G6PD, IKBKG, LOC107181288 1 0 0 0 1 0 0 2
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 1 0 0 0 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 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 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 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC130068881 0 0 1 0 0 0 0 1
TAFAZZIN 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 16 93 252 21 0 0 425
Dunham Lab, University of Washington 102 152 20 7 21 0 0 302
Illumina Laboratory Services, Illumina 2 1 58 4 4 0 0 69
Revvity Omics, Revvity 18 18 31 0 0 0 0 67
OMIM 37 0 0 0 0 0 0 37
Mendelics 29 1 3 0 0 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 0 11 8 6 0 0 30
Fulgent Genetics, Fulgent Genetics 12 5 3 1 1 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 10 6 5 0 0 0 0 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 10 3 0 0 0 0 20
3billion 3 5 8 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 2 0 0 0 0 14
Baylor Genetics 6 0 5 0 0 0 0 11
Lifecell International Pvt. Ltd 8 2 1 0 0 0 0 11
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 1 0 0 0 0 0 5
Counsyl 5 0 0 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 0 0 0 0 0 4
MGZ Medical Genetics Center 4 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 3 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 0 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 1 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 3 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 0 0 0 0 0 4
New York Genome Center 2 0 1 0 0 1 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 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 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 2 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 0 3
Watson Genetic Lab 2 1 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 1
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 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 0 1

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