ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11556C>T (p.Ala3852=)

gnomAD frequency: 0.00005  dbSNP: rs142947855
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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 RCV000245263 SCV000304787 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001406808 SCV001608766 likely benign RYR1-related disorder 2024-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000245263 SCV002066953 likely benign not specified 2017-09-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005230191 SCV005875937 likely benign not provided 2024-09-19 criteria provided, single submitter clinical testing

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