ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3643+5G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003154562 SCV003842934 likely pathogenic not provided 2023-03-16 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003154562 SCV005411113 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing PP3, PM2_moderate

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