ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3147del (p.Lys1050fs)

dbSNP: rs1844915022
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001195647 SCV001194310 likely pathogenic Dilated cardiomyopathy 1DD 2019-12-13 criteria provided, single submitter clinical testing The RBM20-variant c.3147delT is classified by our institute as a likely pathogenic variant, as it is not present in any databases (gnomAD / ExAC) and leads to a truncated protein. Our patient presented with dilated cardiomyopathy, thus the molecular diagnosis fits the clinical symptoms of the patient.

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