ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) (rs149185729)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721620 SCV000336672 uncertain significance not provided 2015-10-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261115 SCV000412366 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316380 SCV000412367 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378714 SCV000412368 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284219 SCV000412369 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000264217 SCV000596903 uncertain significance not specified 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000721620 SCV000660003 likely benign not provided 2018-11-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721620 SCV000852725 uncertain significance not provided 2013-10-24 criteria provided, single submitter clinical testing

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