ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)

gnomAD frequency: 0.00004  dbSNP: rs202225176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526099 SCV000659959 likely benign RYR1-related disorder 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483516 SCV002778493 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 2021-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133373 SCV003813161 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing

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