ClinVar Miner

Variants studied for inherited deficiency anemia

Included ClinVar conditions (30):
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 not provided total
660 360 2642 3988 947 34 8237

Gene and significance breakdown #

Total genes and gene combinations: 54
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 66 68 655 434 155 3 1268
HCFC1 6 1 115 672 255 0 1035
MTR 58 29 199 574 66 0 914
MTRR 76 30 159 481 50 1 779
TCN2 48 8 202 310 41 2 581
CP 70 7 222 149 43 2 455
MMACHC 95 75 112 190 10 3 430
AMN 27 28 59 295 25 1 419
LMBRD1 28 22 110 235 24 2 407
MMADHC 42 30 62 169 17 7 306
ABCD4 18 10 116 112 33 0 279
FTCD 11 4 94 90 35 1 229
UMPS 5 2 117 20 49 0 190
CBLIF 7 6 58 44 12 3 121
SARM1, SLC46A1 4 1 72 10 23 4 111
SLC11A2 7 1 62 5 24 0 97
AMN, LOC130056554 5 5 13 62 1 0 84
SLC19A2 15 3 51 2 12 0 83
TF 4 3 36 10 16 0 68
LOC129930446, MMACHC 23 12 14 18 0 0 57
LOC121853040, TCN2 1 0 19 18 4 0 41
TMPRSS6 14 5 13 0 9 0 37
SLC46A1 8 1 19 4 2 4 35
HCFC1, LOC130068842 0 0 4 14 12 0 30
CP, HPS3 0 1 13 11 6 0 29
AMN, LOC130056553 1 1 2 16 2 0 20
CUBN, LOC126860871 1 2 5 7 3 0 17
LOC129932886, MTR 1 1 2 13 0 0 17
COL6A2, FTCD 0 0 4 10 3 0 16
LOC126806368, MMADHC 1 1 2 8 2 0 14
CUBN, LOC129390143 0 0 8 4 2 0 13
DHFR, MSH3 0 0 0 0 9 0 9
LOC129931894, SLC19A2 2 0 7 0 0 0 9
LOC130060550, SLC46A1 1 1 4 0 0 0 6
MMACHC, PRDX1 4 0 1 0 0 0 5
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 4
DHFR 2 0 1 0 0 0 3
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 2
TSEN54 2 0 0 0 0 0 2
AGTR1, ANKUB1, COMMD2, CP, CPA3, CPB1, GYG1, HLTF, HPS3, RNF13, TM4SF1, TM4SF18, TM4SF4, WWTR1 1 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
IL2RB, LOC130067341, TMPRSS6 1 0 0 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 1
PRDX1 0 0 0 0 1 0 1
STEAP3 1 0 0 0 0 0 1
TOX 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 456 143 1748 3820 737 0 6904
Illumina Laboratory Services, Illumina 5 3 771 134 271 0 1184
Fulgent Genetics, Fulgent Genetics 36 24 215 94 8 0 377
Genome-Nilou Lab 32 24 47 20 91 0 214
Baylor Genetics 69 52 39 0 0 0 160
Natera, Inc. 15 6 61 34 35 0 151
OMIM 127 0 0 0 0 0 127
Revvity Omics, Revvity 18 15 67 1 0 0 101
Counsyl 20 23 30 1 0 0 74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 51 20 0 0 0 0 71
GeneReviews 41 0 0 0 0 17 58
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 10 38 0 56
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 10 11 0 0 0 27
Mendelics 9 2 5 4 4 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 11 0 0 0 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 3 12 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 4 9 7 0 0 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 5 1 0 0 13
3billion 9 0 3 1 0 0 13
New York Genome Center 2 1 9 0 0 0 12
Pars Genome Lab 0 0 1 0 11 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 5 0 0 0 0 10
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 10 10
MGZ Medical Genetics Center 1 2 6 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 4 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 4 0 0 0 9
Elsea Laboratory, Baylor College of Medicine 4 0 4 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 1 0 0 8
Myriad Genetics, Inc. 1 6 1 0 0 0 8
Neurology Department, Peking University First Hospital 6 0 1 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 6 0 1 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 6 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 3 0 7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 6 0 0 0 0 0 6
Dept of Medicine and Surgery, University of Milano-Bicocca 5 1 0 0 0 0 6
MVZ Medizinische Genetik Mainz 4 1 1 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 3 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 2 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 2 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
BloodGenetics 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
GenePathDx, GenePath diagnostics 0 1 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Hemoglobin and Genome Lab, University of Campinas 0 2 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
DASA 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Biochemistry Laboratory, Bechir Hamza Children's Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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