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
45 34 63 50 28 174

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Maple syrup urine disease 23 29 43 15 8 103
not provided 26 6 24 1 10 66
not specified 0 0 1 39 22 51
Maple syrup urine disease type 1A 8 2 0 0 0 9
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 23 3 23 1 20 70
GeneDx 7 1 1 30 16 55
Counsyl 6 21 14 0 0 41
Illumina Clinical Services Laboratory,Illumina 0 0 23 11 3 37
Invitae 4 5 7 3 5 24
PreventionGenetics 0 0 0 6 6 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
Integrated Genetics/Laboratory Corporation of America 1 2 0 0 1 4
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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1

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