ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8693-10G>C (rs2915958)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079180 SCV000111049 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000079180 SCV000519605 benign not specified 2016-01-25 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.
Genetic Services Laboratory, University of Chicago RCV000079180 SCV000194875 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316734 SCV000412596 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373720 SCV000412597 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281537 SCV000412598 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320148 SCV000412599 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079180 SCV000269792 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.8693-10G>C in intron 56 of RYR1: This variant is not expected to have clinical significance because it has been identified in 42.6% (1877/4406) of African Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2915958).
Leiden Muscular Dystrophy (RYR1) RCV000119758 SCV000154665 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079180 SCV000305056 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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