ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)

gnomAD frequency: 0.00003  dbSNP: rs370469515
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721385 SCV000852435 uncertain significance not provided 2016-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000804504 SCV000944416 likely benign RYR1-related disorder 2024-08-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330922 SCV004037872 likely benign not specified 2023-08-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999823 SCV004827537 likely benign Malignant hyperthermia, susceptibility to, 1 2024-05-30 criteria provided, single submitter clinical testing

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