ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.126_128GCA[7] (p.Gln52_Gln55del) (rs41550117)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720236 SCV000851113 likely benign Seizures 2017-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Other strong data
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188530 SCV000341685 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000188530 SCV000242145 benign not specified 2014-12-29 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP,CHILD-EPI,INFANT-EPI panel(s).
Invitae RCV000456165 SCV000556230 likely benign Progressive sclerosing poliodystrophy 2017-09-12 criteria provided, single submitter clinical testing

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