ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.286-8_286-7del

dbSNP: rs2043139110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001772249 SCV001211314 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001772249 SCV002003158 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
CeGaT Center for Human Genetics Tuebingen RCV001772249 SCV002545092 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing POLE: PM2, BP4

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