ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp)

dbSNP: rs546323484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996871 SCV001151831 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481783 SCV002785688 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 2021-12-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000996871 SCV003812412 uncertain significance not provided 2020-07-28 criteria provided, single submitter clinical testing

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