ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4171-1814C>T

gnomAD frequency: 0.00001  dbSNP: rs1362224320
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000976192 SCV001124091 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327198 SCV002629997 likely benign Hereditary cancer-predisposing syndrome 2021-07-06 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.
GeneDx RCV003229001 SCV003925898 uncertain significance not provided 2023-05-12 criteria provided, single submitter clinical testing In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; 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.