ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg)

gnomAD frequency: 0.00001  dbSNP: rs376463335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001399241 SCV001601026 likely benign Dilated cardiomyopathy 1DD 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343665 SCV004058439 benign Cardiovascular phenotype 2023-06-29 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.
GeneDx RCV004724942 SCV005332038 uncertain significance not provided 2023-05-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29420653)
Blueprint Genetics RCV000157432 SCV000207176 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-06-11 no assertion criteria provided clinical testing

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