ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9789C>T (p.Tyr3263=)

dbSNP: rs372613003
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251330 SCV000305083 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084694 SCV001012648 likely benign RYR1-related disorder 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000721758 SCV001249997 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000721758 SCV001874144 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998984 SCV004832036 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing This variant is located in the RYR1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR1-related disorders in the literature. This variant has been identified in 43/250326 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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