ClinVar Miner

Variants in gene SALL1

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
31 3 67 52 28 161

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Townes-Brocks syndrome 1 13 0 32 33 14 89
not provided 8 3 32 2 4 49
not specified 0 0 0 24 23 41
Townes syndrome 11 0 3 5 8 27
Townes-Brocks-branchiootorenal-like syndrome 2 0 0 0 0 2
Inborn genetic diseases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 29 33 11 73
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 21 9 10 41
Invitae 11 0 3 5 8 27
GeneDx 7 2 5 6 4 24
PreventionGenetics 0 0 0 8 14 22
OMIM 12 0 0 0 0 12
Gharavi Laboratory,Columbia University 0 1 5 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 2 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
Athena Diagnostics Inc 0 0 0 0 2 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 1 2
GeneReviews 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
Ambry Genetics 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1

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