ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2196C>T (p.Pro732=)

dbSNP: rs1554842740
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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 RCV000600858 SCV004513330 likely benign Dilated cardiomyopathy 1DD 2024-01-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600858 SCV000732922 likely benign Dilated cardiomyopathy 1DD no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700234 SCV001917593 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726268 SCV001963769 likely benign not provided no assertion criteria provided clinical testing

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