ClinVar Miner

Variants in gene DBT

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 total
40 28 177 56 53 324

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Maple syrup urine disease 17 23 160 35 40 264
not provided 16 5 21 11 9 61
not specified 0 0 1 16 16 26
Maple syrup urine disease type 2 7 0 1 0 0 8
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
Neurodevelopmental disorder 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 125 15 29 170
Invitae 13 6 19 27 18 83
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 1 21 1 14 52
Counsyl 0 13 19 2 0 34
GeneDx 2 4 0 11 9 26
OMIM 12 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 4 5
PreventionGenetics,PreventionGenetics 0 0 0 3 2 5
Genetic Services Laboratory, University of Chicago 1 0 1 2 0 4
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
Mendelics 1 1 0 0 0 2
Fulgent Genetics,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
Myriad Women's Health, Inc. 1 1 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1

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