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 not provided total
116 117 188 385 52 1 727

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Maple syrup urine disease 110 114 138 360 37 1 671
not provided 30 9 31 23 28 0 111
Maple syrup urine disease type 1A 13 6 36 16 17 0 88
Inborn genetic diseases 4 0 25 27 0 0 56
not specified 0 0 8 28 22 0 49
BCKDHA-related condition 1 0 1 17 4 0 23
Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 90 33 86 349 27 0 585
GeneDx 8 3 6 37 37 0 91
Natera, Inc. 13 3 34 16 17 0 83
Baylor Genetics 26 44 0 0 0 0 70
Eurofins Ntd Llc (ga) 23 3 23 1 20 0 70
Genome-Nilou Lab 25 6 10 19 10 0 70
Illumina Laboratory Services, Illumina 0 0 39 8 20 0 67
Ambry Genetics 4 0 25 27 0 0 56
Counsyl 6 20 14 0 0 0 40
PreventionGenetics, part of Exact Sciences 1 0 1 21 10 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 7 7 0 1 0 27
Fulgent Genetics, Fulgent Genetics 6 6 7 3 0 0 22
Myriad Genetics, Inc. 2 14 1 0 0 0 17
Revvity Omics, Revvity 5 6 2 0 0 0 13
CeGaT Center for Human Genetics Tuebingen 2 1 1 5 1 0 10
OMIM 9 0 0 0 0 0 9
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 8 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 1 1 0 4 0 0 6
National Newborn Screening Laboratory, Hospital Nacional de Niños 5 1 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 5 0 5
Clinical Genetics, Academic Medical Center 0 0 0 2 3 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 1 0 0 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Mendelics 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 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 DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 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
New York Genome Center 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 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

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