ClinVar Miner

Submissions for variant NM_005549.2(KCNA10):c.682A>G (p.Ile228Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV004733991 SCV005367917 uncertain significance Congenital long QT syndrome no assertion criteria provided research The c.682A>G missense variant in KCNA10 is absent from population databases (PM2). In silico predictions support a damaging effect (PP3). ACMG codes: PM2, PP3.

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