ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) (rs371047178)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000270289 SCV000920385 likely pathogenic Myopathy, Central Core 2019-01-01 criteria provided, single submitter research The same individual also harbours another variant g.[38969101T>C] in the same gene along with this variant as compound heterozygote
GeneDx RCV000481398 SCV000569618 likely benign not specified 2016-10-19 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 RCV000481398 SCV000596900 uncertain significance not specified 2016-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333149 SCV000412281 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362205 SCV000412282 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270289 SCV000412283 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327677 SCV000412284 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540470 SCV000659969 likely benign RYR1-Related Disorders 2017-11-16 criteria provided, single submitter clinical testing

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