ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2241G>A (p.Leu747=)

gnomAD frequency: 0.00526  dbSNP: rs34097444
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249200 SCV000304879 benign not specified 2017-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406734 SCV000411922 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299420 SCV000411923 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356407 SCV000411924 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263975 SCV000411925 likely benign Multiminicore myopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000249200 SCV000614906 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552527 SCV000659884 benign RYR1-related disorder 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000249200 SCV000730816 benign not specified 2017-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
All of Us Research Program, National Institutes of Health RCV003998965 SCV004820765 benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703515 SCV005207109 likely benign not provided criteria provided, single submitter not provided

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