ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14414A>G (p.Lys4805Arg)

dbSNP: rs1343071356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776965 SCV002013980 uncertain significance not provided 2020-01-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22787013, 30170228, 24025405, 24136861, 19926015)

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