ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3067-16_3067-15del (rs727504453)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155430 SCV000732274 likely benign not specified 2017-10-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155430 SCV000205120 not provided not specified 2012-12-04 no assertion provided clinical testing The 3067-16_3067-15delCT variant in RYR2 has not been reported in the literature nor previously identified by our laboratory. This variant has been identified in 0.1% (4/3682) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess its clinical significance.

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