ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=)

gnomAD frequency: 0.00017  dbSNP: rs372379166
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232245 SCV000285973 benign Rhabdoid tumor predisposition syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397430 SCV000410465 benign Coffin-Siris syndrome 2018-01-13 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.
GeneDx RCV001697300 SCV000533512 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562446 SCV000663918 likely benign Hereditary cancer-predisposing syndrome 2015-06-26 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.
Genome-Nilou Lab RCV001808590 SCV002057044 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000562446 SCV002532364 benign Hereditary cancer-predisposing syndrome 2021-03-05 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001697300 SCV004220376 benign not provided 2023-01-09 criteria provided, single submitter clinical testing

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