ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.4864+10G>A (rs201665695)

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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 RCV000192891 SCV000248974 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Invitae RCV000230612 SCV000286113 benign Rhabdoid tumor predisposition syndrome 2 2018-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000192891 SCV000530710 likely benign not specified 2017-10-20 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192891 SCV000859978 benign not specified 2018-03-07 criteria provided, single submitter clinical testing

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