ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.859+7T>A

gnomAD frequency: 0.00138  dbSNP: rs141461778
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205273 SCV000262165 benign Rhabdoid tumor predisposition syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385817 SCV000410459 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 RCV000436801 SCV000518022 likely benign not specified 2017-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001808571 SCV002057036 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444832 SCV002676356 likely benign Hereditary cancer-predisposing syndrome 2015-09-06 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000436801 SCV002773987 benign not specified 2021-08-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572681 SCV002822503 benign not provided 2024-07-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001572681 SCV005208252 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572681 SCV001797426 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000436801 SCV001808947 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000436801 SCV001971752 benign not specified no assertion criteria provided clinical testing

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