ClinVar Miner

Submissions for variant NM_001128849.1(SMARCA4):c.1419+9C>T (rs374635008)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514649 SCV000610504 benign not provided 2017-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000503035 SCV000729729 likely benign not specified 2017-08-25 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.
Genetic Services Laboratory, University of Chicago RCV000503035 SCV000597185 likely benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326927 SCV000410472 likely benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228556 SCV000285989 benign Rhabdoid tumor predisposition syndrome 2 2018-01-03 criteria provided, single submitter clinical testing

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