ClinVar Miner

Variants studied for Biotinidase deficiency

Coded as:
Minimum submission review status: Collection method:
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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
199 58 88 8 16 1 291

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTD 199 58 80 7 15 1 282
BTD, HACL1 0 0 8 1 1 0 9

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARUP Institute,ARUP Laboratories 194 2 6 0 12 0 214
Counsyl 13 48 55 4 0 0 120
Invitae 17 4 12 3 7 0 43
Illumina Clinical Services Laboratory,Illumina 3 1 20 2 1 0 27
OMIM 11 0 0 0 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 0 0 0 0 10
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 8
Fulgent Genetics 5 3 0 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,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 1 1 1 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1

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