ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11541G>A (p.Glu3847=)

dbSNP: rs1386408853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614560 SCV000724652 likely benign not specified 2017-11-13 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.
CeGaT Center for Human Genetics Tuebingen RCV003424182 SCV004141636 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7

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