ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=)

gnomAD frequency: 0.00012  dbSNP: rs562290651
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Total submissions: 5
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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 RCV000214631 SCV000270787 likely benign not specified 2015-01-02 criteria provided, single submitter clinical testing p.Pro1059Pro in c.3177A>G of RBM20: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 1/2260 of Afri can American chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org).
Invitae RCV000469286 SCV000562795 likely benign Dilated cardiomyopathy 1DD 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619255 SCV000737187 likely benign Cardiovascular phenotype 2016-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770283 SCV000901715 likely benign Cardiomyopathy 2022-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001563366 SCV001786296 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing

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