ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.238-12T>C

gnomAD frequency: 0.00001  dbSNP: rs529233633
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002148339 SCV002465994 likely benign Familial meningioma 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV003234168 SCV003930737 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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.