ClinVar Miner

Variants studied for Biotinidase deficiency

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
165 157 196 201 14 6 595

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTD 164 157 196 200 14 6 593
BTD, COLQ, HACL1 1 0 0 0 0 0 1
MLKL 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 126 37 109 192 13 0 477
Counsyl 8 50 55 4 0 0 117
Baylor Genetics 52 53 1 0 0 0 106
Natera, Inc. 21 6 25 9 8 0 69
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 11 0 0 0 0 28
Illumina Laboratory Services, Illumina 3 1 20 2 1 0 27
Fulgent Genetics, Fulgent Genetics 9 7 8 0 0 0 24
Revvity Omics, Revvity 12 4 6 0 0 0 22
Mendelics 12 5 2 1 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 2 2 1 2 0 16
OMIM 13 0 0 0 0 0 13
Genome-Nilou Lab 2 2 5 3 0 0 12
Myriad Genetics, Inc. 6 2 2 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 2 2 0 1 0 10
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 1 0 0 0 0 7
MGZ Medical Genetics Center 3 2 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 3 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Arcensus 1 4 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 1 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 4
Suma Genomics 2 1 1 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 1 0 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
SingHealth Duke-NUS Institute of Precision Medicine 1 1 1 0 0 0 3
3billion 1 2 0 0 0 0 3
DASA 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 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 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Sidra Medicine 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 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 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 1

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