ClinVar Miner

Variants in gene SALL1

Minimum submission review status: Collection method:
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Gene type:
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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
36 8 56 42 35 156

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 8 5 33 12 11 69
Townes syndrome 14 0 6 6 19 45
Townes-Brocks syndrome 1 16 3 16 3 6 42
not specified 0 0 0 25 23 42
Townes-Brocks-branchiootorenal-like syndrome 2 0 0 0 0 2
Inborn genetic diseases 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1
Rare genetic syndrome 0 0 1 0 0 1
VACTERL association with hydrocephalus 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 0 6 16 22 58
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 21 9 10 41
GeneDx 7 4 5 6 4 26
PreventionGenetics,PreventionGenetics 0 0 0 8 14 22
OMIM 12 0 0 0 0 12
Illumina Clinical Services Laboratory,Illumina 0 0 8 2 1 11
Athena Diagnostics Inc 0 0 0 0 6 6
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 1 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 4 4
Mendelics 1 0 1 1 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 1 2
GeneReviews 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1

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