ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5434C>T (p.Pro1812Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Medical Biology, Uskudar University RCV003318449 SCV004022047 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, BP4

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