ClinVar Miner

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

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Total submissions: 9
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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 2019-12-31 criteria provided, single submitter clinical testing
Invitae RCV001080908 SCV000630164 benign Progressive sclerosing poliodystrophy 2020-12-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000676326 SCV001149575 uncertain significance not provided 2021-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289633 SCV001477597 benign none provided 2020-04-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676326 SCV000802093 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000676326 SCV001740998 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000676326 SCV001932537 likely benign not provided no assertion criteria provided clinical testing

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