ClinVar Miner

Submissions for variant NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) (rs773204795)

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Total submissions: 2
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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 RCV000623303 SCV000740413 likely pathogenic Long QT syndrome 2017-05-29 criteria provided, single submitter clinical testing
OMIM RCV000412644 SCV000490359 pathogenic Ventricular tachycardia, catecholaminergic polymorphic, 3 2020-02-28 no assertion criteria provided literature only

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