ClinVar Miner

Variants studied for vitamin B12 deficiency

Included ClinVar conditions (26):
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
716 594 2869 4490 819 52 9026

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 76 128 966 520 158 3 1710
HCFC1 6 1 130 712 259 0 1094
MTR 65 38 202 618 67 0 976
MTRR 83 43 166 497 51 1 821
TCN2 53 12 207 337 41 2 620
MMAA 82 73 198 205 23 16 542
AMN 28 36 112 314 25 1 500
MMACHC 97 81 137 196 10 3 459
LMBRD1 30 31 110 249 25 2 433
MMAB 63 50 148 182 36 12 424
ABCD4 19 26 119 129 33 0 314
MMADHC 42 30 62 176 17 7 312
CD320 1 1 85 44 19 0 147
CBLIF 8 6 59 47 12 3 126
TCN1 5 0 46 56 8 0 115
AMN, LOC130056554 5 6 19 66 1 0 95
MMAB, MVK 11 8 26 37 7 1 82
LOC129930446, MMACHC 24 13 17 19 0 0 62
LOC121853040, TCN2 2 1 19 19 4 0 43
HCFC1, LOC130068842 0 0 4 14 12 0 30
CUBN, LOC126860871 1 2 9 10 3 0 24
AMN, LOC130056553 1 3 2 17 2 0 23
LOC129932886, MTR 1 1 2 13 0 0 17
CUBN, LOC129390143 0 1 10 4 2 0 16
LOC126806368, MMADHC 1 1 2 8 2 0 14
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 1 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: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 572 173 1767 4384 715 0 7611
Fulgent Genetics, Fulgent Genetics 73 204 778 105 5 0 1165
Illumina Laboratory Services, Illumina 5 3 516 63 172 0 759
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 85 0 0 0 0 0 85
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 46 20 0 0 0 0 66
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 8 9 0 0 0 25
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
Neuberg Centre For Genomic Medicine, NCGM 5 7 8 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 9 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 1 6 1 0 0 16
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, Medical Genetics 7 0 3 1 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 3 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 6 2 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 3 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
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
Daryl Scott Lab, Baylor College of Medicine 2 0 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Suma Genomics 2 0 0 0 0 0 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
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 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
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 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
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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