ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys)

gnomAD frequency: 0.00001  dbSNP: rs957248353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001965402 SCV002220644 likely benign Dilated cardiomyopathy 1DD 2023-10-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001965402 SCV003920388 uncertain significance Dilated cardiomyopathy 1DD 2021-03-30 criteria provided, single submitter clinical testing RBM20 NM_001134363.2 exon 9 p.Glu804Lys (c.2410G>A): This variant has not been reported in the literature and is present in 0.01% (3/25428) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/10-112572565-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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