ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9001-15C>A

dbSNP: rs372702492
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721725 SCV000852854 uncertain significance not provided 2013-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485829 SCV002787930 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 2021-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768164 SCV004661787 likely benign RYR1-related disorder 2024-01-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999866 SCV004817870 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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