ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4171-13A>G

gnomAD frequency: 0.00047  dbSNP: rs201298366
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000300912 SCV000410506 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.
GeneDx RCV001090449 SCV000730727 likely benign not provided 2020-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808765 SCV002057098 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057478 SCV002447100 benign Rhabdoid tumor predisposition syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258876 SCV002532964 likely benign Hereditary cancer-predisposing syndrome 2020-10-06 criteria provided, single submitter curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001090449 SCV002035075 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001090449 SCV002035412 likely benign not provided no assertion criteria provided clinical testing

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