ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1494C>T (p.Pro498=) (rs11231865)

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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 RCV000081307 SCV000113225 benign not specified 2013-05-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081307 SCV000311165 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000128550 SCV000373017 likely benign Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000128550 SCV000626781 benign Glycogen storage disease, type V 2017-06-22 criteria provided, single submitter clinical testing
GeneReviews RCV000128550 SCV000172193 benign Glycogen storage disease, type V 2014-06-26 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675633 SCV000801334 benign not provided 2017-05-24 no assertion criteria provided clinical testing

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