ClinVar Miner

Variants studied for Biotinidase deficiency

Coded as:
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 not provided total
178 203 211 214 15 6 655

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 177 203 211 213 15 6 653
BTD, COLQ, HACL1 1 0 0 0 0 0 1
MLKL 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 136 40 115 205 14 0 510
Natera, Inc. 34 36 33 9 8 0 120
Baylor Genetics 53 61 5 0 0 0 119
Counsyl 8 50 55 4 0 0 117
Fulgent Genetics, Fulgent Genetics 18 44 9 0 0 0 71
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 16 0 0 0 0 41
Illumina Laboratory Services, Illumina 3 1 18 2 1 0 25
Revvity Omics, Revvity 12 4 6 0 0 0 22
Mendelics 12 4 3 1 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 4 2 1 3 0 19
OMIM 13 0 0 0 0 0 13
Genome-Nilou Lab 2 2 5 3 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 2 0 1 0 12
Neuberg Centre For Genomic Medicine, NCGM 5 5 2 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 2 2 5 0 1 0 10
Myriad Genetics, Inc. 6 2 2 0 0 0 10
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 5 0 0 0 0 8
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
3billion 2 3 2 0 0 0 7
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
Arcensus 1 4 0 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 3 0 0 0 0 5
Centogene AG - the Rare Disease Company 3 0 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 0 0 0 0 4
Suma Genomics 2 1 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
DASA 3 0 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 1 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
New York Genome Center 1 1 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 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
Pars Genome Lab 0 0 0 1 0 0 1
School of Biotechnology, University of Jammu 1 0 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
Variantyx, Inc. 1 0 0 0 0 0 1

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