ClinVar Miner

Submissions for variant NM_020803.5(KLHL8):c.*2476_*2477del

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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 RCV004733989 SCV005367915 uncertain significance Catecholaminergic polymorphic ventricular tachycardia no assertion criteria provided research The c.2476_2477delAA missense variant in KLHL8 is not reported in gnomAD (PM2). ACMG codes: PM2.

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