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
105 82 150 110 13 3 380

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTD 105 82 150 110 13 3 380

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 73 10 76 102 12 0 273
Counsyl 8 50 57 4 0 0 119
Natera, Inc. 21 6 25 9 8 0 69
Illumina Laboratory Services,Illumina 3 1 20 2 1 0 27
Mendelics 12 5 2 1 0 0 20
PerkinElmer Genomics 8 8 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 8 2 2 1 2 0 15
OMIM 13 0 0 0 0 0 13
Genome-Nilou Lab 2 2 5 3 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 3 0 0 0 0 11
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
Fulgent Genetics,Fulgent Genetics 5 3 0 0 0 0 8
Myriad Women's Health, Inc. 6 0 2 0 0 0 8
GeneReviews 5 0 0 0 0 0 5
Genetic Services Laboratory,University of Chicago 4 0 0 0 0 0 4
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 1 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
Kasturba Medical College, Manipal, Manipal Academy of Higher Education 2 1 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
DASA 3 0 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
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
Neuberg Supratech Reference Laboratories Pvt Ltd,Neuberg Centre for Genomic Medicine 0 2 0 0 0 0 2
Baylor Genetics 1 0 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
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
Broad Institute Rare Disease Group, Broad Institute 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
Pars Genome Lab 0 0 0 1 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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