ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)

dbSNP: rs727504583
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Total submissions: 3
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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 RCV000155756 SCV000205467 uncertain significance not specified 2013-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000458254 SCV000552910 likely benign Dilated cardiomyopathy 1DD 2023-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000458254 SCV002785700 uncertain significance Dilated cardiomyopathy 1DD 2021-12-29 criteria provided, single submitter clinical testing

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