ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)

gnomAD frequency: 0.00001  dbSNP: rs794727946
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180427 SCV000232860 uncertain significance not provided 2014-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852247 SCV002247544 likely benign RYR1-related disorder 2024-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500520 SCV002813360 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-10-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996587 SCV004819823 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-30 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 5/251404 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586602 SCV005076816 likely benign not specified 2024-04-09 criteria provided, single submitter clinical testing

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