ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.39del (p.Ser14fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404931 SCV006065960 likely pathogenic Cardiovascular phenotype 2024-09-24 criteria provided, single submitter clinical testing PVS1, PM2

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