ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11034+20G>T

gnomAD frequency: 0.00456  dbSNP: rs186460831
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079121 SCV000110990 benign not specified 2013-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079121 SCV000304769 benign not specified 2017-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000079121 SCV000532764 likely benign not specified 2018-03-13 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 RCV002055105 SCV002347745 benign RYR1-related disorder 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490684 SCV002803641 benign Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703208 SCV005207188 likely benign not provided criteria provided, single submitter not provided

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