ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) (rs41550117)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188532 SCV000242147 benign not specified 2014-08-19 criteria provided, single submitter clinical testing The variant is found in POLG panel(s).
Genetic Services Laboratory,University of Chicago RCV000188532 SCV000248552 likely benign not specified 2015-04-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224549 SCV000280678 likely benign not provided 2015-08-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001080808 SCV000556233 likely benign Progressive sclerosing poliodystrophy 2019-12-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188532 SCV000707571 benign not specified 2017-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716182 SCV000847019 benign Seizures 2017-09-14 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Other strong data;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224549 SCV000802103 likely benign not provided 2016-02-29 no assertion criteria provided clinical testing

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