ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3646G>A (p.Gly1216Ser)

gnomAD frequency: 0.00014  dbSNP: rs200114024
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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 RCV003329278 SCV000544097 likely benign not provided 2024-09-23 criteria provided, single submitter clinical testing
GeneDx RCV003329278 SCV004036335 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28719003)

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