ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.1287G>A (p.Ala429=) (rs143600641)

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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 RCV000567839 SCV000663882 likely benign Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Genetic Services Laboratory, University of Chicago RCV000194909 SCV000248950 uncertain significance not specified 2015-05-22 criteria provided, single submitter clinical testing
Invitae RCV000227696 SCV000285983 likely benign Rhabdoid tumor predisposition syndrome 2 2017-10-18 criteria provided, single submitter clinical testing

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