ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.2275-3C>A (rs117611401)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564444 SCV000663884 likely benign Hereditary cancer-predisposing syndrome 2017-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000193996 SCV000297029 benign not specified 2015-07-20 criteria provided, single submitter clinical testing
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.
Genetic Services Laboratory, University of Chicago RCV000193996 SCV000248955 benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345652 SCV000410484 likely benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204957 SCV000262308 likely benign Rhabdoid tumor predisposition syndrome 2 2018-01-04 criteria provided, single submitter clinical testing

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