ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.856-17CTC[4] (rs200056162)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188547 SCV000242165 benign not specified 2014-07-23 criteria provided, single submitter clinical testing The variant is found in EPILEPSY,INFANT-EPI,CHILD-EPI panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188547 SCV000333771 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676326 SCV000614737 likely benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV001080908 SCV000630164 benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000676326 SCV001149575 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676326 SCV000802093 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing

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