ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.2418C>T (p.Phe806=) (rs770432256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574318 SCV000672213 likely benign Hereditary cancer-predisposing syndrome 2016-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Genetic Services Laboratory, University of Chicago RCV000499939 SCV000597186 likely benign not specified 2017-01-29 criteria provided, single submitter clinical testing
Invitae RCV000466393 SCV000559294 likely benign Rhabdoid tumor predisposition syndrome 2 2017-11-02 criteria provided, single submitter clinical testing

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