ClinVar Miner

Variants in gene BTD

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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 other not provided total
202 77 106 9 15 1 1 307

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Biotinidase deficiency 199 58 80 7 15 0 1 282
not provided 24 21 24 1 3 1 0 71
not specified 2 2 10 4 5 0 0 20
Inborn genetic diseases 2 0 1 0 0 0 0 3
Cryptorchidism; Global developmental delay; Macrocephalus; Generalized hypotonia 0 0 1 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ARUP Institute,ARUP Laboratories 194 2 6 0 11 0 0 213
Counsyl 13 48 51 4 0 0 0 116
Invitae 17 4 12 3 7 0 0 43
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 4 17 1 5 1 0 42
GeneDx 15 12 5 3 2 0 0 37
Quest Diagnostics Nichols Institute San Juan Capistrano 13 5 9 0 1 0 0 28
Illumina Clinical Services Laboratory,Illumina 3 1 16 1 1 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 2 2 0 3 0 0 12
OMIM 11 0 0 0 0 0 0 11
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 8
Fulgent Genetics 5 3 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 0 2 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 1 0 1 1 0 0 6
GeneReviews 5 0 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 0 4
Ambry Genetics 2 0 1 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 1 1 1 0 0 0 0 3
PreventionGenetics 0 0 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1

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