ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1020C>T (p.Tyr340=)

gnomAD frequency: 0.00001  dbSNP: rs778349211
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263164 SCV002543915 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003095967 SCV003463006 likely benign RYR1-related disorder 2023-12-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005572 SCV004815758 likely benign Malignant hyperthermia, susceptibility to, 1 2023-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003095967 SCV005346123 likely benign RYR1-related disorder 2024-05-06 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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