ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.1815T>C (p.Pro605=) (rs1034540403)

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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 RCV000569488 SCV000664028 likely benign Hereditary cancer-predisposing syndrome 2015-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000608303 SCV000721903 likely benign not specified 2017-08-07 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.
Invitae RCV000474887 SCV000559404 likely benign Rhabdoid tumor predisposition syndrome 2 2017-11-13 criteria provided, single submitter clinical testing

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