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
94 102 211 47 57 466

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 19 19 95 19 16 158
BCKDHB 37 56 45 7 25 153
BCKDHA 38 27 42 15 8 112
DLD 0 0 29 6 7 42
DLD, LAMB1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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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 9 77 47 4 0 137
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 55 13 1 0 0 69
Invitae 16 6 19 4 14 59
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 20 0 0 0 0 20
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 3 0 0 0 7
Fulgent Genetics 3 2 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 4 1 0 0 0 5
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

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