ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11193+10del

gnomAD frequency: 0.00005  dbSNP: rs758829487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001393030 SCV001594680 likely benign RYR1-Related Disorders 2021-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895286 SCV004715756 likely benign RYR1-related condition 2022-07-15 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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