ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.573C>T (p.Asp191=) (rs892054)

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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 RCV000147434 SCV000203445 benign not specified 2014-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000147434 SCV000729982 benign not specified 2017-06-16 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 RCV000147434 SCV000194844 benign not specified 2014-02-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286789 SCV000411834 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341801 SCV000411835 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391546 SCV000411836 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306757 SCV000411837 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000558929 SCV000659973 benign RYR1-Related Disorders 2018-01-22 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119642 SCV000154549 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147434 SCV000304967 benign not specified 2018-03-13 criteria provided, single submitter clinical testing

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