ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8598C>T (p.Thr2866=)

gnomAD frequency: 0.00006  dbSNP: rs538250432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193410 SCV000248777 uncertain significance not specified 2015-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078654 SCV000660069 benign RYR1-related disorder 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000721710 SCV000852839 likely benign not provided 2018-09-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996910 SCV004821648 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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