ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13329-11T>G

gnomAD frequency: 0.00008  dbSNP: rs778172821
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220720 SCV000272378 uncertain significance not specified 2020-01-08 criteria provided, single submitter clinical testing The c.13329-11T>G variant in RYR2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 5/98830 European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.13329-11T>G variant is uncertain. ACMG/AMP criteria applied: BP4.
Color Diagnostics, LLC DBA Color Health RCV001187343 SCV001354114 likely benign Cardiomyopathy 2019-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518192 SCV002399360 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997748 SCV004821445 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-02-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000220720 SCV005185493 likely benign not specified 2024-05-06 criteria provided, single submitter clinical testing

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