ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser)

gnomAD frequency: 0.00001  dbSNP: rs1568583100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721303 SCV000852332 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499324 SCV002816022 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 2021-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000721303 SCV003812512 uncertain significance not provided 2019-09-05 criteria provided, single submitter clinical testing

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