ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1603GAG[5] (p.Glu538_Phe539insGlu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005242043 SCV005889453 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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