ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) (rs200069592)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000147419 SCV000843508 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238822 SCV000296941 uncertain significance Malignant hypothermia 2015-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147419 SCV000194817 likely pathogenic not provided 2014-01-08 criteria provided, single submitter clinical testing
Invitae RCV000655707 SCV000777638 likely benign RYR1-Related Disorders 2018-01-01 criteria provided, single submitter clinical testing

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