ClinVar Miner

Submissions for variant NM_001128844.2(SMARCA4):c.2275-3C>A (rs117611401)

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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 RCV000193996 SCV000248955 benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Invitae RCV000990148 SCV000262308 benign Rhabdoid tumor predisposition syndrome 2 2020-12-08 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000193996 SCV000297029 benign not specified 2015-07-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345652 SCV000410484 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436144 SCV000511656 likely benign not provided 2016-11-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000193996 SCV000568031 likely benign not specified 2017-12-07 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.
Ambry Genetics RCV000564444 SCV000663884 likely benign Hereditary cancer-predisposing syndrome 2018-11-23 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
Mendelics RCV000990148 SCV001140977 likely benign Rhabdoid tumor predisposition syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000436144 SCV001151645 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287533 SCV001474232 likely benign none provided 2019-12-09 criteria provided, single submitter clinical testing

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