ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) (rs71581787)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173815 SCV000224968 benign not specified 2016-05-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173815 SCV000311162 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306631 SCV000373024 likely benign Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000306631 SCV000626778 benign Glycogen storage disease, type V 2017-06-19 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675638 SCV000801339 benign not provided 2017-03-14 no assertion criteria provided clinical testing

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