ClinVar Miner

Variants in gene DBT

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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 total
32 23 110 34 26 199

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Maple syrup urine disease 10 18 95 19 16 149
not provided 15 5 20 2 1 42
not specified 0 0 2 16 16 27
Maple syrup urine disease type 2 6 0 1 0 0 7
Intermediate maple syrup urine disease type 2 4 0 0 0 0 4
Maple syrup urine disease, thiamine-responsive, type II 3 0 0 0 0 3

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 1 0 69 17 8 95
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 1 21 1 14 52
Counsyl 1 14 18 2 0 35
GeneDx 2 4 0 10 6 22
Invitae 5 2 8 0 6 21
OMIM 12 0 0 0 0 12
PreventionGenetics 0 0 0 3 2 5
Genetic Services Laboratory, University of Chicago 1 0 1 2 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 2 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 2 0 0 0 3
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Fulgent Genetics 1 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Ege University Pediatric Genetics,Ege University 1 0 1 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1

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