ClinVar Miner

Variants studied for maple syrup urine disease

Included ClinVar conditions (6):
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
417 428 722 1292 190 4 2755

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DBT 100 95 224 311 55 0 726
BCKDHB 142 131 159 293 50 3 684
BCKDHA 112 123 153 361 37 1 683
DLD 57 79 124 294 38 0 552
PPM1K 2 0 56 26 9 0 92
DLD, LOC129999127 0 0 2 7 0 0 9
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, MFSD14A, RTCA, S1PR1, SASS6, SLC30A7, SLC35A3, TRMT13, VCAM1 0 0 1 0 0 0 1
B3GNT8, BCKDHA 1 0 0 0 0 0 1
BCKDK 0 0 1 0 0 0 1
DBT, LOC129931021 0 0 1 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
DLD, SLC26A3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 341 97 367 1237 100 0 2142
Illumina Laboratory Services, Illumina 2 3 244 35 100 0 384
Baylor Genetics 89 149 6 0 0 0 244
Genome-Nilou Lab 62 32 42 41 51 0 228
Natera, Inc. 31 10 81 34 34 0 190
Counsyl 9 94 53 4 0 0 160
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 49 27 0 0 0 0 76
Myriad Genetics, Inc. 5 68 2 0 0 0 75
Fulgent Genetics, Fulgent Genetics 14 8 13 8 0 0 43
Revvity Omics, Revvity 16 15 11 0 0 0 42
OMIM 41 0 0 0 0 0 41
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 20 0 0 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 6 8 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 15 0 15
Mendelics 8 5 1 0 1 0 15
National Newborn Screening Laboratory, Hospital Nacional de Niños 9 1 1 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 2 3 5 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 0 0 0 0 9
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 5 1 1 0 0 0 7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 2 0 0 0 0 6
GeneReviews 1 0 0 0 0 4 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 1 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 1 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
3billion 1 1 0 1 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 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
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
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
DASA 1 0 0 0 0 0 1
clinical biochemical genetics laboratory, stanford university 0 0 1 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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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