ClinVar Miner

Variants in gene BTD

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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
169 168 241 211 25 1 6 642

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 164 156 195 200 14 0 6 591
not provided 36 36 48 17 17 1 0 141
not specified 1 1 30 7 7 0 0 42
Inborn genetic diseases 6 3 25 2 0 0 0 36
BTD-related condition 2 1 2 0 0 0 0 5
Intellectual disability 0 0 2 2 0 0 0 4
Cryptorchidism; Global developmental delay; Macrocephaly; 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: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 125 37 109 193 13 0 0 477
Counsyl 8 50 55 4 0 0 0 117
Baylor Genetics 52 53 1 0 0 0 0 106
Natera, Inc. 21 6 25 9 8 0 0 69
GeneDx 18 17 12 6 15 0 0 68
Quest Diagnostics Nichols Institute San Juan Capistrano 20 13 16 4 5 0 0 58
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 11 21 4 2 0 0 55
Eurofins Ntd Llc (ga) 14 4 17 1 6 1 0 43
Ambry Genetics 6 3 25 2 0 0 0 36
CeGaT Center for Human Genetics Tuebingen 12 3 7 7 4 0 0 33
Illumina Laboratory Services, Illumina 3 1 20 2 1 0 0 27
Fulgent Genetics, Fulgent Genetics 9 7 8 0 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 11 3 4 1 4 0 0 23
Revvity Omics, Revvity Omics 12 4 6 0 0 0 0 22
Mendelics 12 5 2 1 0 0 0 20
OMIM 13 0 0 0 0 0 0 13
Genome-Nilou Lab 2 2 5 3 0 0 0 12
Myriad Genetics, Inc. 6 2 2 0 0 0 0 10
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 6 0 2 0 0 0 0 8
Preventiongenetics, part of Exact Sciences 2 1 2 0 2 0 0 7
MGZ Medical Genetics Center 3 2 1 0 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 3 1 0 1 1 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 3 1 0 0 0 0 6
GeneReviews 0 0 0 0 0 0 5 5
Arcensus 1 4 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 1 0 0 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 3 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 0 1 0 0 0 4
Suma Genomics 2 1 1 0 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 1 0 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 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
3billion 1 2 0 0 0 0 0 3
DASA 3 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 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 for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 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
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 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
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 0 1

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