ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.153G>T (p.Pro51=)

gnomAD frequency: 0.00083  dbSNP: rs760605118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718862 SCV000514376 likely benign not provided 2019-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456648 SCV000562788 likely benign Dilated cardiomyopathy 1DD 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402126 SCV002707047 benign Cardiovascular phenotype 2020-12-15 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.

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