ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6813G>A (p.Thr2271=)

gnomAD frequency: 0.00003  dbSNP: rs147786842
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996886 SCV001151858 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV001435765 SCV001638591 likely benign RYR1-related disorder 2023-12-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514450 SCV004358110 likely benign Malignant hyperthermia, susceptibility to, 1 2022-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV001435765 SCV004762680 likely benign RYR1-related disorder 2019-11-04 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).
All of Us Research Program, National Institutes of Health RCV003514450 SCV004820662 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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