ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9090C>T (p.His3030=)

gnomAD frequency: 0.00014  dbSNP: rs767704607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442889 SCV000533560 likely benign not specified 2017-12-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001471411 SCV001675515 likely benign RYR1-related disorder 2021-10-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514362 SCV004358160 likely benign Malignant hyperthermia, susceptibility to, 1 2022-12-07 criteria provided, single submitter clinical testing

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