ClinVar Miner

Variants studied for Maple syrup urine disease

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
349 262 451 1019 137 4 2070

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DBT 89 78 192 332 54 0 711
BCKDHA 116 93 124 380 37 1 686
BCKDHB 141 91 132 307 46 3 667
BCKDHB, ELOVL4, HMGN3, LCA5, LINC01621, PHIP, SH3BGRL2, TTK 2 0 0 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, RTCA, S1PR1, SASS6, SLC30A7, SLC35A3, SLC71A1, TRMT13, VCAM1 0 0 1 0 0 0 1
B3GNT8, BCKDHA 1 0 0 0 0 0 1
DBT, LOC129931021 0 0 1 0 0 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
Labcorp Genetics (formerly Invitae), Labcorp 307 87 257 980 71 0 1702
Illumina Laboratory Services, Illumina 2 2 176 25 75 0 280
Genome-Nilou Lab 62 32 39 40 46 0 219
Baylor Genetics 26 65 0 0 0 0 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 30 28 0 0 0 0 58
Myriad Genetics, Inc. 3 50 2 0 0 0 55
Fulgent Genetics, Fulgent Genetics 6 4 11 6 0 0 27
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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 2 0 0 0 0 6
Counsyl 0 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 5
Department of Genetics, Sultan Qaboos University Hospital 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 1 0 0 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Natera, Inc. 0 0 0 0 2 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
3billion 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Clinical Genetics and Genomics Laboratory, Noor Shahriyar 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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
New York Genome Center 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1

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