ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)

gnomAD frequency: 0.00049  dbSNP: rs56338790
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265326 SCV000412632 uncertain significance Multiminicore myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304062 SCV000412633 uncertain significance Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361218 SCV000412634 uncertain significance Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268916 SCV000412635 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087825 SCV000660083 likely benign RYR1-related disorder 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000721733 SCV000852862 likely benign not provided 2018-02-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000721733 SCV003799519 likely benign not provided 2022-05-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000721733 SCV003813144 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995873 SCV004823212 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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