ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1593C>T (p.Gly531=)

gnomAD frequency: 0.00009  dbSNP: rs927675372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334520 SCV001527387 uncertain significance Central core myopathy 2018-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865812 SCV002146876 likely benign RYR1-related disorder 2023-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476551 SCV002784177 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 2021-08-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005143 SCV004829439 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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