ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8209-7_8209-4del (rs876657992)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540150 SCV000637619 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216030 SCV000272397 uncertain significance not specified 2016-03-18 criteria provided, single submitter clinical testing The c.8209-7_8209-4delTTTT variant in RYR2 has not been previously reported in i ndividuals with cardiomyopathy. Data from large population studies is insuffici ent to assess the frequency of this variant. This deletion is located in the 3' splice region. Computational tools suggest some impact to splicing. However, thi s information is not predictive enough to determine pathogenicity. In summary, t he clinical significance of the c.8209-7_8209-4delTTTT variant is uncertain.

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