ClinVar Miner

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

Included ClinVar conditions (15):
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
116 95 246 42 85 14 558

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 9 39 65 4 19 2 132
MMACHC 37 28 43 2 3 3 105
TCN2 5 1 55 21 21 2 90
MTR 14 1 15 2 10 0 41
CBLIF 8 1 21 4 3 3 35
AMN 1 23 3 1 3 2 31
MTRR 12 0 11 0 8 0 31
HCFC1 6 0 11 2 6 0 25
MMADHC 12 1 3 2 5 0 23
ABCD4 5 0 12 1 4 0 22
LMBRD1 4 0 7 3 3 2 19
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

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 46 6 140 21 77 0 290
Illumina Clinical Services Laboratory,Illumina 2 1 54 18 6 0 81
Counsyl 20 24 31 1 0 0 76
OMIM 53 0 0 0 0 0 53
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Integrated Genetics/Laboratory Corporation of America 15 2 0 0 0 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 7 7 0 0 0 17
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 10 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 0 5 0 0 0 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
GeneReviews 7 0 0 0 0 0 7
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 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
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 Genetic Testing 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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.