ClinVar Miner

Variants studied for Townes-Brocks syndrome

Included ClinVar conditions (3):
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 total
22 0 34 37 18 104

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
SALL1 21 34 37 18 103
DACT1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 29 33 11 73
Invitae 8 2 5 8 23
OMIM 11 0 0 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 3
GeneReviews 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 1

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