ClinVar Miner

Variants in gene BCKDHB

Minimum submission review status: Collection method:
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Gene type:
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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
77 84 129 83 50 1 360

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Maple syrup urine disease 61 69 87 56 34 0 274
not provided 27 17 35 16 7 0 98
Maple syrup urine disease type 1B 10 3 14 0 3 1 30
not specified 0 0 2 18 8 0 26
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB 6 0 0 0 0 0 6
See cases 0 0 1 1 1 0 3

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 49 12 31 59 7 0 158
Illumina Clinical Services Laboratory,Illumina 1 2 38 6 27 0 74
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 22 11 29 2 6 0 70
Counsyl 2 42 15 2 0 0 61
GeneDx 5 6 1 15 7 0 34
Natera, Inc. 4 0 14 0 3 0 21
Integrated Genetics/Laboratory Corporation of America 14 3 2 0 0 0 19
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 10 0 0 0 0 0 10
Myriad Women's Health, Inc. 0 9 0 0 0 0 9
OMIM 6 0 0 0 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 3 2 0 5
Mendelics 1 3 1 0 0 0 5
Lineagen, Inc 1 0 3 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 1 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 1
ISCA site 1 0 0 0 0 1 0 1
ISCA site 4 0 0 0 1 0 0 1
ISCA site 14 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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