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
64 54 107 130 33 315

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Maple syrup urine disease 44 51 76 103 23 260
not provided 28 6 25 12 9 79
not specified 0 0 1 39 22 51
Maple syrup urine disease type 1A 15 2 15 6 11 49
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: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 30 21 25 99 14 189
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
Natera, Inc. 5 1 15 6 11 38
PreventionGenetics, PreventionGenetics 0 0 0 6 6 12
Integrated Genetics/Laboratory Corporation of America 10 1 0 0 1 12
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
Myriad Women's Health, Inc. 0 5 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 4 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 0 0 1 4
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 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 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 1
Shieh Lab,University of California, San Francisco 0 1 0 0 0 1

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