ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)

gnomAD frequency: 0.00102  dbSNP: rs76048624
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724708 SCV000231610 uncertain significance not provided 2015-04-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221172 SCV000270783 likely benign not specified 2015-01-14 criteria provided, single submitter clinical testing p.Asp534Asp in exon 6 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 0.2% (4/2290) of A frican American chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs76048624).
GeneDx RCV000724708 SCV000514382 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
Invitae RCV001079157 SCV000562769 likely benign Dilated cardiomyopathy 1DD 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399639 SCV002709165 likely benign Cardiovascular phenotype 2018-05-31 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000221172 SCV001927896 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724708 SCV001974925 likely benign not provided no assertion criteria provided clinical testing

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