ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2904G>A (p.Pro968=)

gnomAD frequency: 0.00017  dbSNP: rs146651758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001449188 SCV001652297 likely benign RYR1-Related Disorders 2021-09-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424428 SCV004141587 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003955774 SCV004770906 likely benign RYR1-related condition 2020-02-03 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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