ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3080A>T (p.Asn1027Ile)

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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 RCV003318439 SCV004021994 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2

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