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
32 3 70 62 36 175

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 15 0 34 33 14 92
not provided 8 3 33 14 21 78
not specified 0 0 0 25 23 42
Townes syndrome 11 0 3 4 5 23
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: 25
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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
Invitae 11 0 3 16 22 52
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 21 9 10 41
GeneDx 7 2 5 6 4 24
PreventionGenetics,PreventionGenetics 0 0 0 8 14 22
OMIM 12 0 0 0 0 12
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
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
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
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
Ambry Genetics 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 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

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