ClinVar Miner

Variants in gene SMARCA1

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
0 12 110 8 4 132

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition likely pathogenic uncertain significance likely benign benign total
not provided 0 48 7 4 59
not specified 0 47 1 0 47
Neurodevelopmental disorder 9 16 0 0 25
SMARCA1-related disorder 0 3 0 0 3
Non-syndromic X-linked intellectual disability 2 0 0 0 2
Abnormal brain morphology 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 1
See cases 0 1 0 0 1
X-linked intellectual disability 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 46 0 0 46
GeneDx 0 32 1 0 33
Developmental Brain Disorders Lab, Seattle Children's Hospital 9 16 0 0 25
Labcorp Genetics (formerly Invitae), Labcorp 0 0 4 4 8
CeGaT Center for Human Genetics Tuebingen 0 5 3 0 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 0 3
PreventionGenetics, part of Exact Sciences 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2
Baylor Genetics 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Revvity Omics, Revvity 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Bionano Laboratories 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1
New York Genome Center 0 1 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.