ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9122+7C>T

gnomAD frequency: 0.00001  dbSNP: rs199667629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893846 SCV001037806 likely benign RYR1-Related Disorders 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884792 SCV004702660 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing RYR1: PM2, BP4
PreventionGenetics, part of Exact Sciences RCV003950429 SCV004764452 likely benign RYR1-related condition 2022-09-19 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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