ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) (rs11231866)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081303 SCV000113221 benign not specified 2014-11-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081303 SCV000311163 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000128547 SCV000373020 likely benign Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000128547 SCV000626779 benign Glycogen storage disease, type V 2017-07-24 criteria provided, single submitter clinical testing
GeneReviews RCV000128547 SCV000172190 benign Glycogen storage disease, type V 2014-06-26 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675636 SCV000801337 benign not provided 2017-04-17 no assertion criteria provided clinical testing

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