ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2904C>T (p.Ala968=)

gnomAD frequency: 0.00001  dbSNP: rs587781138
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127746 SCV000171325 benign not specified 2014-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003326354 SCV001148096 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing RBM20: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002055774 SCV002392010 likely benign Dilated cardiomyopathy 1DD 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003338418 SCV004058346 likely benign Cardiovascular phenotype 2023-07-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.