ClinVar Miner

Variants in gene SMARCE1

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 risk factor total
15 12 217 107 6 4 348

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Meningioma, familial 11 6 189 85 6 4 300
Hereditary cancer-predisposing syndrome 1 0 61 46 0 0 108
not provided 2 4 7 14 0 0 27
Coffin-Siris syndrome 5 3 1 2 0 0 0 6
Inborn genetic diseases 0 1 1 0 0 0 2
Intellectual disability 0 0 1 0 0 0 1
Meningioma, familial; Coffin-Siris syndrome 5 0 0 1 0 0 0 1
not specified 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 11 5 188 90 6 0 300
Ambry Genetics 1 1 61 46 0 0 109
GeneDx 1 3 3 0 0 0 7
OMIM 2 0 0 0 0 4 6
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 1 0 0 4
Genetic Services Laboratory, University of Chicago 1 1 0 1 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.