ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn)

dbSNP: rs794728578
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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 RCV000845367 SCV000987423 likely pathogenic Long QT syndrome criteria provided, single submitter clinical testing

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