ClinVar Miner

Variants studied for inborn disorder of branched-chain amino acid metabolism

Included ClinVar conditions (11):
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
570 623 1161 1905 298 4 4136

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HLCS 97 130 274 441 50 0 904
DBT 104 106 226 321 55 0 748
BCKDHB 146 145 160 302 50 3 705
BCKDHA 116 131 153 375 37 1 703
DLD 58 88 130 304 38 0 575
HIBCH 22 21 57 56 16 0 158
ALDH6A1, BBOF1 7 0 58 15 29 0 106
PPM1K 2 0 59 31 10 0 101
BCKDK 6 2 33 53 6 0 99
DLD, LOC129999127 0 0 2 7 0 0 9
BCAT2 7 0 0 0 0 0 7
HLCS, LOC130066639 0 0 1 0 6 0 7
ALDH6A1 0 0 2 0 0 0 2
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
AIFM1, RAB33A 0 0 1 0 0 0 1
ARMC5, BCKDK, BCL7C, CFAP119, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, RUSF1, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 0 0 0 1
B3GNT8, BCKDHA 1 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 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
DLD, SLC26A3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 454 123 591 1816 158 0 3142
Illumina Laboratory Services, Illumina 4 3 405 60 153 0 625
Baylor Genetics 109 199 14 0 0 0 322
Natera, Inc. 38 13 118 47 48 0 264
Genome-Nilou Lab 62 32 45 42 61 0 242
Counsyl 12 112 66 4 0 0 194
Fulgent Genetics, Fulgent Genetics 38 113 21 16 0 0 188
Myriad Genetics, Inc. 5 107 3 0 0 0 115
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 60 33 0 0 0 0 93
OMIM 77 0 0 0 0 0 77
Revvity Omics, Revvity 18 22 20 0 0 0 60
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 7 11 0 0 0 27
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 20 0 0 0 0 0 20
Mendelics 10 6 1 0 1 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 15 0 15
Neuberg Centre For Genomic Medicine, NCGM 4 6 5 0 0 0 15
National Newborn Screening Laboratory, Hospital Nacional de Niños 9 1 1 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 5 0 0 0 0 11
Elsea Laboratory, Baylor College of Medicine 1 0 5 2 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 2 0 0 0 7
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 5 1 1 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 2 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 1 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 1 0 0 0 6
GeneReviews 1 0 0 0 0 4 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
SingHealth Duke-NUS Institute of Precision Medicine 1 0 3 0 1 0 5
3billion, Medical Genetics 2 1 0 2 0 0 5
Genetic Services Laboratory, University of Chicago 2 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 2 1 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 0 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 1 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 1 1 0 0 0 0 2
New York Genome Center 0 1 1 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
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 1 0 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
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Bonnen Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 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
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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 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
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Al Jenan Medical 0 1 0 0 0 0 1

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