ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)

gnomAD frequency: 0.00153  dbSNP: rs115992445
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083887 SCV000559402 benign Rhabdoid tumor predisposition syndrome 2 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570129 SCV000663948 likely benign Hereditary cancer-predisposing syndrome 2015-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV000459806 SCV001151639 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BP7, BS2
GeneDx RCV000459806 SCV001822362 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809428 SCV002057851 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570129 SCV002532851 benign Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002475909 SCV002773984 benign not specified 2021-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489120 SCV002797918 likely benign Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2021-09-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000459806 SCV004562155 benign not provided 2022-12-28 criteria provided, single submitter clinical testing

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.