ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) (rs867851900)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000721315 SCV000341059 uncertain significance not provided 2016-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388448 SCV000412955 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296266 SCV000412956 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344212 SCV000412957 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400884 SCV000412958 uncertain significance Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549654 SCV000659815 likely benign RYR1-Related Disorders 2020-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721315 SCV000852346 uncertain significance not provided 2012-07-17 criteria provided, single submitter clinical testing

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