ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44548+2T>G

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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 RCV005404058 SCV006065482 likely pathogenic Cardiovascular phenotype 2025-01-24 criteria provided, single submitter clinical testing PVS1, PM2

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