ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2589G>A (p.Pro863=)

gnomAD frequency: 0.00001  dbSNP: rs533971791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002066096 SCV002380110 likely benign RYR1-Related Disorders 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970567 SCV004778105 likely benign RYR1-related condition 2022-08-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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