ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.1236C>T (p.Phe412=) (rs140000691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573080 SCV000663943 likely benign Hereditary cancer-predisposing syndrome 2015-08-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000193505 SCV000522122 likely benign not specified 2015-12-10 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 RCV000193505 SCV000248949 likely benign not specified 2014-10-27 criteria provided, single submitter clinical testing
Invitae RCV000226951 SCV000285980 likely benign Rhabdoid tumor predisposition syndrome 2 2017-12-10 criteria provided, single submitter clinical testing

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