ClinVar Miner

Variants studied for constitutional megaloblastic anemia due to vitamin B12 metabolism disorder

Included ClinVar conditions (16):
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
214 137 839 397 290 14 1756

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 28 45 341 78 115 2 561
MTRR 31 8 42 94 29 0 198
MMACHC 66 43 63 45 5 3 195
TCN2 14 4 117 42 35 2 195
MTR 20 4 56 18 20 0 115
HCFC1 6 0 48 31 29 0 113
MMADHC 18 5 34 27 15 0 91
ABCD4 6 2 39 21 12 0 78
LMBRD1 6 0 44 13 10 2 72
AMN 10 23 14 15 11 2 68
CBLIF 6 2 37 12 9 3 61
MMADHC, MMADHC-DT 0 0 3 1 0 0 4
MMACHC, PRDX1 2 0 0 0 0 0 2
AMN, TRAF3 1 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 129 25 435 343 193 0 1125
Illumina Clinical Services Laboratory,Illumina 2 1 342 55 126 0 526
Counsyl 20 24 31 1 0 0 76
OMIM 68 0 0 0 0 0 68
Natera, Inc. 1 1 25 13 27 0 67
Baylor Genetics 29 6 24 0 0 0 59
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 11 10 0 0 0 27
Integrated Genetics/Laboratory Corporation of America 22 3 0 0 0 0 25
Mendelics 4 2 4 2 4 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 0 5 1 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 8 0 10
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 10 10
Fulgent Genetics,Fulgent Genetics 4 0 5 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 3 0 0 0 0 8
Elsea Laboratory,Baylor College of Medicine 4 0 4 0 0 0 8
GeneReviews 7 0 0 0 0 0 7
Neurology Department,Peking University First Hospital 6 0 1 0 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 2 3 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 2 0 0 0 4
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 2 2 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
New York Genome Center 0 0 3 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 2 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 1
Breda Genetics srl 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
Nilou-Genome Lab 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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