ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.2460C>T (p.Tyr820=) (rs372410282)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192713 SCV000248957 uncertain significance not specified 2015-05-27 criteria provided, single submitter clinical testing
Invitae RCV000205351 SCV000262355 likely benign not provided 2019-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000192713 SCV000530092 likely benign not specified 2016-07-20 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.
Ambry Genetics RCV000566380 SCV000663993 likely benign Hereditary cancer-predisposing syndrome 2015-07-28 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)

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