ClinVar Miner

Variants in gene BTD

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 other not provided total
208 88 130 28 18 1 1 356

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Biotinidase deficiency 205 69 99 8 16 0 1 309
not provided 28 24 31 19 6 1 0 104
not specified 2 1 9 4 6 0 0 19
Inborn genetic diseases 2 0 1 0 0 0 0 3
Cryptorchidism; Global developmental delay; Macrocephalus; Generalized hypotonia 0 0 1 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Research and Development, ARUP Laboratories 194 2 6 0 12 0 0 214
Counsyl 13 50 57 4 0 0 0 124
Invitae 24 6 23 21 9 0 0 82
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 4 17 1 6 1 0 43
Quest Diagnostics Nichols Institute San Juan Capistrano 15 7 13 0 3 0 0 38
GeneDx 15 12 5 3 2 0 0 37
Illumina Clinical Services Laboratory,Illumina 3 1 20 2 1 0 0 27
Mendelics 11 5 2 1 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 2 2 0 4 0 0 15
OMIM 11 0 0 0 0 0 0 11
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 8
Fulgent Genetics,Fulgent Genetics 5 3 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 0 2 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 1 0 1 1 0 0 6
GeneReviews 5 0 0 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 1 0 0 0 0 0 4
Ambry Genetics 2 0 1 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 1 1 1 0 0 0 0 3
PreventionGenetics,PreventionGenetics 0 0 0 0 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 0 1
Medical Genetics and Immunology,Urmia University of Medical sciences 0 1 0 0 0 0 0 1

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