ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14869-5C>G

gnomAD frequency: 0.00001  dbSNP: rs1199304403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695461 SCV000823960 likely benign RYR1-related disorder 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499246 SCV002812772 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 2021-09-01 criteria provided, single submitter clinical testing

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