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
43 9 64 43 35 170

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 5 36 12 11 73
Townes syndrome 21 0 7 9 19 56
Townes-Brocks syndrome 1 17 4 19 3 6 46
not specified 0 0 0 25 23 42
Congenital anomalies of kidney and urinary tract 0 0 2 0 0 2
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
VACTERL association with hydrocephalus 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 0 7 17 22 67
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 1 0 7 8
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
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
Ambry Genetics 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 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
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 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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