ClinVar Miner

Variants studied for Maple syrup urine disease

Coded as:
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
325 321 510 964 139 4 2038

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DBT 82 86 219 311 54 0 698
BCKDHA 110 114 138 360 37 1 671
BCKDHB 132 121 148 293 47 3 662
DLD 0 0 2 0 0 0 2
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 0 1
AGL, CDC14A, DBT, DPH5, EXTL2, GPR88, LRRC39, MFSD14A, RTCA, S1PR1, SASS6, SLC30A7, SLC35A3, TRMT13, VCAM1 0 0 1 0 0 0 1
BCKDHB, ELOVL4, HMGN3, LCA5, LINC01621, PHIP, SH3BGRL2, TTK 1 0 0 0 0 0 1
DBT, LOC129931021 0 0 1 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 278 82 248 918 71 0 1597
Illumina Laboratory Services, Illumina 2 2 204 29 77 0 314
Genome-Nilou Lab 62 32 39 40 46 0 219
Baylor Genetics 75 98 0 0 0 0 173
Counsyl 8 75 48 4 0 0 135
Myriad Genetics, Inc. 3 50 2 0 0 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 16 0 0 0 0 39
Fulgent Genetics, Fulgent Genetics 12 8 11 6 0 0 37
Revvity Omics, Revvity 14 11 8 0 0 0 33
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 20 0 0 0 0 0 20
Mendelics 7 5 1 0 0 0 13
National Newborn Screening Laboratory, Hospital Nacional de Niños 9 1 1 0 0 0 11
OMIM 9 0 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 4 3 0 0 0 0 7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 1 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 1 0 3
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 2
Natera, Inc. 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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