ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8816+5_8816+6delinsAT

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135824 SCV003814441 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540623 SCV004774224 likely benign RYR1-related disorder 2022-05-06 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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