ClinVar Miner

Variants in gene BCKDHA

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 total
51 40 92 81 33 244

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Maple syrup urine disease 30 35 71 48 23 178
not provided 28 6 25 12 9 79
not specified 0 0 1 39 22 51
Maple syrup urine disease type 1A 12 1 0 0 0 13
Hypervalinemia; Global developmental delay; Seizures; Encephalopathy; Hyperleucinemia; Hyperisoleucinemia; Abnormal urinary odor; Musty odor 0 2 0 0 0 2
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA 2 0 0 0 0 2
Intellectual disability 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 12 21 50 14 111
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 23 3 23 1 20 70
Illumina Clinical Services Laboratory,Illumina 0 0 39 8 20 67
GeneDx 7 1 1 30 16 55
Counsyl 7 21 14 0 0 42
PreventionGenetics,PreventionGenetics 0 0 0 6 6 12
Integrated Genetics/Laboratory Corporation of America 8 1 0 0 1 10
OMIM 9 0 0 0 0 9
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 8 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 1 0 0 4 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Lineagen, Inc 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Diagnostic Laboratory,Strasbourg University Hospital 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 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.