ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12012+19T>C

gnomAD frequency: 0.01243  dbSNP: rs181590606
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245871 SCV000304801 benign not specified 2018-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000245871 SCV000523399 benign not specified 2016-02-24 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001795405 SCV002049301 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057372 SCV002437475 benign RYR1-related disorder 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494712 SCV002803148 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 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001795405 SCV005310887 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000245871 SCV001922834 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245871 SCV001956601 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795405 SCV002035971 likely benign not provided no assertion criteria provided clinical testing

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