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
220 73 123 76 19 3 399

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 220 73 123 76 19 3 399

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Research and Development, ARUP Laboratories 194 2 6 0 12 0 214
Invitae 49 9 45 69 11 0 183
Counsyl 8 50 57 4 0 0 119
Natera, Inc. 13 1 10 3 6 0 33
Illumina Clinical Services Laboratory,Illumina 3 1 20 2 1 0 27
Mendelics 11 5 2 1 0 0 19
OMIM 13 0 0 0 0 0 13
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 1 0 0 1 0 7
Myriad Women's Health, Inc. 6 0 0 0 0 0 6
GeneReviews 5 0 0 0 0 0 5
Nilou-Genome Lab 1 0 1 3 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 4
Elsea Laboratory,Baylor College of Medicine 1 0 2 0 0 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 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
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
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

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