ClinVar Miner

Variants in gene SMARCAL1

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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 23 158 137 22 340

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Schimke immuno-osseous dysplasia 41 15 137 125 21 307
not provided 5 4 34 16 0 59
not specified 0 0 0 6 11 16
Inherited Immunodeficiency Diseases 0 3 0 0 0 3
Atrioventricular septal defect; Short stature; Focal segmental glomerulosclerosis; Microcephaly; Small for gestational age; Disproportionate short-trunk short stature; Decreased body weight; Congenital microcephaly; Steroid-resistant nephrotic syndrome 2 0 0 0 0 2
Atypical hemolytic uremic syndrome 0 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 8 85 126 18 268
Natera, Inc. 3 0 26 11 14 54
Illumina Clinical Services Laboratory,Illumina 1 0 35 7 11 54
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 30 2 4 37
PreventionGenetics, PreventionGenetics 0 0 0 4 11 15
OMIM 8 0 0 0 0 8
GeneDx 2 3 1 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 1 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 1 1 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 1 1 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 1 0 0 0 0 1

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