ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu)

gnomAD frequency: 0.00002  dbSNP: rs730880181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700838 SCV000829611 likely benign Dilated cardiomyopathy 1DD 2022-09-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157427 SCV000207171 uncertain significance Pulmonary valve stenosis (rare); Ventricular tachycardia 2014-08-15 no assertion criteria provided clinical testing

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