ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=)

dbSNP: rs550796495
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876644 SCV001019241 benign Rhabdoid tumor predisposition syndrome 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022690 SCV001184454 likely benign Hereditary cancer-predisposing syndrome 2015-08-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001809868 SCV002057106 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001022690 SCV002532984 likely benign Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter curation

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.