ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2319C>T (p.Asp773=) (rs374924686)

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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 RCV000721447 SCV000226878 uncertain significance not provided 2015-02-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382164 SCV000411930 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271334 SCV000411931 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328927 SCV000411932 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385851 SCV000411933 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655655 SCV000777586 benign RYR1-Related Disorders 2017-11-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000721447 SCV000852517 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing

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