ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4171-1858T>A

gnomAD frequency: 0.00018  dbSNP: rs201309716
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228161 SCV000286072 benign Rhabdoid tumor predisposition syndrome 2 2025-02-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340569 SCV000410504 benign Coffin-Siris syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Sema4, Sema4 RCV002256138 SCV002532949 benign Hereditary cancer-predisposing syndrome 2021-07-13 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477807 SCV004220445 benign not provided 2023-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002256138 SCV004849302 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-01 criteria provided, single submitter clinical testing The c.4171-9T>A intronic alteration consists of a T to A substitution 9 nucleotides before coding exon 29 in the SMARCA4 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.