ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1338-11G>A

gnomAD frequency: 0.00004  dbSNP: rs372064165
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156879 SCV000206600 uncertain significance not specified 2014-11-10 criteria provided, single submitter clinical testing The c.1338-11G>A in RBM20 has not been previously reported in individuals with c ardiomyopathy and has not been identified in large population databases, though it is listed in dbSNP (rs372064165) without frequency information. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pat hogenicity. In summary, the clinical significance of the c.1338-11G>A variant is uncertain.
GeneDx RCV000156879 SCV000514380 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.
Invitae RCV002053896 SCV002455460 likely benign Dilated cardiomyopathy 1DD 2023-09-20 criteria provided, single submitter clinical testing

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