ClinVar Miner

Variants studied for biotinidase deficiency

Included ClinVar conditions (1):
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
168 168 194 201 14 6 606

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 167 168 194 200 14 6 604
BTD, COLQ, HACL1 1 0 0 0 0 0 1
MLKL 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 126 37 109 192 13 0 477
Baylor Genetics 55 63 1 0 0 0 119
Counsyl 8 50 55 4 0 0 117
Natera, Inc. 21 6 25 9 8 0 69
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 12 0 0 0 0 34
Illumina Laboratory Services, Illumina 3 2 19 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 3 2 0 1 0 11
Myriad Genetics, Inc. 6 2 2 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 4 4 1 0 0 0 9
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
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
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
Suma Genomics, Suma Genomics 2 1 1 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 1 0 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 1 0 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 Laboratory, 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 1 0 0 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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