ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.223-5C>T

gnomAD frequency: 0.00066  dbSNP: rs376775933
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192965 SCV000248954 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084416 SCV000286010 benign Rhabdoid tumor predisposition syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264082 SCV000410451 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.
Ambry Genetics RCV000565130 SCV000663910 likely benign Hereditary cancer-predisposing syndrome 2018-09-05 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 RCV000231479 SCV001151638 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BS2
GeneDx RCV000231479 SCV001805243 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000231479 SCV002010718 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000231479 SCV002047111 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808537 SCV002057840 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565130 SCV002532822 benign Hereditary cancer-predisposing syndrome 2020-11-12 criteria provided, single submitter curation

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