ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12013-18C>A

dbSNP: rs377516769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002113859 SCV002438257 likely benign RYR1-related disorder 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500162 SCV002811307 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 2021-09-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770414 SCV005381016 likely benign not specified 2024-08-15 criteria provided, single submitter clinical testing

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