ClinVar Miner

Variants studied for vitamin B12 deficiency

Included ClinVar conditions (24):
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
675 445 2358 4168 810 52 8052

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 66 69 655 434 155 3 1268
HCFC1 6 1 114 672 255 0 1034
MTR 58 29 199 574 66 0 914
MTRR 76 29 159 481 50 1 778
TCN2 48 8 202 310 41 2 581
MMAA 81 61 171 198 22 16 499
MMACHC 95 75 112 190 10 3 430
AMN 28 28 59 295 25 1 420
LMBRD1 28 22 110 235 24 2 407
MMAB 62 44 131 174 36 12 396
MMADHC 42 30 62 169 17 7 306
ABCD4 18 10 116 112 33 0 279
CBLIF 7 6 58 44 12 3 121
CD320 1 1 65 37 19 0 120
TCN1 4 0 44 46 9 0 103
AMN, LOC130056554 5 5 13 62 1 0 84
MMAB, MVK 11 8 20 36 8 1 76
LOC129930446, MMACHC 23 12 14 18 0 0 57
LOC121853040, TCN2 1 0 19 18 4 0 41
HCFC1, LOC130068842 0 0 4 14 12 0 30
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
LOC126806368, MMADHC 1 1 2 8 2 0 14
CUBN, LOC129390143 0 0 8 4 2 0 13
LOC129993163, MMAA 0 0 5 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 5
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 4
TSEN54 2 0 0 0 0 0 2
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
ARHGAP10, C4orf51, EDNRA, LSM6, MMAA, NR3C2, POU4F2, PRMT9, SLC10A7, TMEM184C, TTC29, ZNF827 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
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

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 533 163 1690 4068 706 0 7160
Illumina Laboratory Services, Illumina 5 3 516 63 172 0 759
Fulgent Genetics, Fulgent Genetics 38 23 198 91 5 0 355
Natera, Inc. 30 9 138 45 47 0 269
Baylor Genetics 102 97 37 0 0 0 236
Genome-Nilou Lab 33 24 56 21 71 0 205
Counsyl 30 50 49 2 0 0 131
Revvity Omics, Revvity 19 15 70 1 0 0 105
OMIM 84 0 0 0 0 0 84
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 18 0 0 0 0 63
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 9 30 0 46
GeneReviews 0 0 0 0 0 33 33
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 33
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 11 11 0 0 0 28
Mendelics 8 3 4 2 6 0 23
Myriad Genetics, Inc. 5 16 1 0 0 0 22
Pars Genome Lab 0 0 1 1 20 0 22
University Children's Hospital, University of Zurich 19 0 1 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 5 7 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 4 7 6 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 1 6 1 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 8 0 0 0 15
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 12 12
New York Genome Center 2 1 9 0 0 0 12
3billion 7 0 3 1 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 3 0 0 0 0 9
Elsea Laboratory, Baylor College of Medicine 4 0 4 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 1 2 0 0 0 8
MGZ Medical Genetics Center 1 2 4 0 0 0 7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 7 0 0 0 0 0 7
Neurology Department, Peking University First Hospital 6 0 1 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 3 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 4 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
MVZ Medizinische Genetik Mainz 4 1 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 1 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 2 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
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
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 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
Lifecell International Pvt. Ltd 1 1 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 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
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
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
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics, 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
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

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