ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7513-8T>G (rs727503402)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639142 SCV000760707 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151767 SCV000200179 uncertain significance not specified 2014-11-06 criteria provided, single submitter clinical testing The c.7513-8T>G variant in RYR2 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 3' splice region. Computational tools do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.7513-8T>G variant is uncertain.

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