ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2981+7G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003627291 SCV004558607 likely benign Progressive sclerosing poliodystrophy 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985908 SCV004775772 likely benign POLG-related disorder 2023-11-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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