ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.3894C>T (p.Asp1298=) (rs373041389)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229768 SCV000286058 likely benign Rhabdoid tumor predisposition syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000501862 SCV000597190 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568040 SCV000664002 likely benign Hereditary cancer-predisposing syndrome 2015-10-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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