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
222 93 148 59 19 1 3 402

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Biotinidase deficiency 220 73 123 52 19 0 3 376
not provided 31 25 35 6 5 1 0 98
not specified 2 1 9 4 6 0 0 19
Inborn genetic diseases 2 1 2 0 0 0 0 5
Intellectual disability 0 0 2 2 0 0 0 4
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
Global developmental delay; Seizures 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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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
Invitae 49 9 45 49 9 0 0 161
Counsyl 8 50 57 4 0 0 0 119
Quest Diagnostics Nichols Institute San Juan Capistrano 17 8 15 0 4 0 0 44
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 14 4 17 1 6 1 0 43
GeneDx 15 12 5 3 2 0 0 37
Natera, Inc. 13 1 10 3 6 0 0 33
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 8 2 2 0 4 0 0 16
OMIM 13 0 0 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 7 0 5 0 0 0 0 12
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
Myriad Women's Health, Inc. 6 0 0 0 0 0 0 6
Ambry Genetics 2 1 2 0 0 0 0 5
GeneReviews 5 0 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 3 0 0 0 1 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 3 0 0 0 0 4
Elsea Laboratory,Baylor College of Medicine 1 0 2 0 0 0 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1

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