ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.126_128GCA[9] (p.Gln54_Gln55del) (rs41550117)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715231 SCV000846059 likely benign Seizures 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153757 SCV000203331 benign not specified 2014-03-20 no assertion criteria provided clinical testing
GeneDx RCV000153757 SCV000242148 likely benign not specified 2013-05-09 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000232830 SCV000287662 benign Progressive sclerosing poliodystrophy 2018-01-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676331 SCV000802101 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing

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