ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)

gnomAD frequency: 0.00002  dbSNP: rs775744847
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591733 SCV000703291 uncertain significance not provided 2016-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001469617 SCV001673697 likely benign RYR1-related disorder 2024-10-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002457 SCV004822715 likely benign Malignant hyperthermia, susceptibility to, 1 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV001469617 SCV004715548 likely benign RYR1-related disorder 2023-08-02 no assertion criteria provided 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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