ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11558-7del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012643 SCV004841343 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-10-23 criteria provided, single submitter clinical testing This variant causes a deletion of one nucleotide in intron 85 splice acceptor site of the RYR2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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