ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14130-9T>G

gnomAD frequency: 0.00088  dbSNP: rs191894192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605164 SCV000718943 likely benign not specified 2018-01-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089247 SCV000777560 benign RYR1-related disorder 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000721351 SCV000852390 likely benign not provided 2017-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498921 SCV002807115 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 2021-08-12 criteria provided, single submitter clinical testing

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