ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) (rs41550117)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188534 SCV000242150 benign not specified 2014-12-23 criteria provided, single submitter clinical testing The variant is found in CHILD-EPI panel(s).
Invitae RCV000226737 SCV000287663 benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514102 SCV000610869 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715953 SCV000846785 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000514102 SCV000802102 benign not provided 2016-02-26 no assertion criteria provided clinical testing

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