ClinVar Miner

Variants studied for Maple syrup urine disease

Coded as:
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
65 102 220 47 52 449

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DBT 12 20 97 19 16 156
BCKDHB 29 53 51 7 22 147
BCKDHA 24 29 43 15 6 103
DLD 0 0 29 6 7 42
DLD, LAMB1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 2 145 38 41 228
Counsyl 10 79 48 4 0 141
Invitae 26 13 28 4 5 76
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 20 0 0 0 0 20
Mendelics 2 4 1 0 0 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 3 0 0 0 7
Fulgent Genetics,Fulgent Genetics 3 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 4 4
GeneReviews 4 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 1 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 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 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

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