ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)

dbSNP: rs200144997
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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 RCV000147399 SCV000194779 uncertain significance not provided 2013-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078628 SCV000777594 likely benign RYR1-related disorder 2024-11-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000147399 SCV003815026 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514310 SCV004358186 likely benign Malignant hyperthermia, susceptibility to, 1 2022-11-06 criteria provided, single submitter clinical testing

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