ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248192 SCV001421661 uncertain significance RYR1-related disorder 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491846 SCV002787175 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 2021-07-06 criteria provided, single submitter clinical testing

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