ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.144_158del (rs41550117)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188529 SCV000242144 benign not specified 2014-05-02 criteria provided, single submitter clinical testing The variant is found in INFANT-EPI,EPILEPSY,MITONUC-MITOP panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188529 SCV000701954 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV000633535 SCV000754781 likely benign Progressive sclerosing poliodystrophy 2019-12-22 criteria provided, single submitter clinical testing

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