ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1518A>G (p.Ala506=)

gnomAD frequency: 0.00001  dbSNP: rs1488570862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001408568 SCV001610569 likely benign RYR1-related disorder 2023-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499875 SCV002806620 likely benign Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883629 SCV004700019 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7

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