ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7584C>G (p.Pro2528=)

dbSNP: rs1465698
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248860 SCV000305008 benign not specified 2018-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553126 SCV000660030 benign RYR1-related disorder 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001711549 SCV000714980 likely benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487121 SCV002801869 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 2021-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711549 SCV004141609 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing RYR1: BP4, BP7

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