ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2002-19T>C

gnomAD frequency: 0.00578  dbSNP: rs111899994
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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 RCV000514834 SCV000609908 likely benign not provided 2017-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000610090 SCV000729732 likely benign not specified 2017-10-09 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000514834 SCV002010029 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV001764509 SCV002349095 benign Rhabdoid tumor predisposition syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496981 SCV002799011 likely benign Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2022-05-24 criteria provided, single submitter clinical testing

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