ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.441C>T (p.His147=)

gnomAD frequency: 0.00004  dbSNP: rs397516619
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Total submissions: 4
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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 RCV000221969 SCV000270789 likely benign not specified 2015-02-03 criteria provided, single submitter clinical testing p.His147His in exon 2 of RBM20: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/622 of East Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV000559341 SCV000648391 likely benign Dilated cardiomyopathy 1DD 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327081 SCV002632026 benign Cardiovascular phenotype 2022-03-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003907816 SCV004725648 likely benign RBM20-related disorder 2019-06-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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