ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6537_6541del (p.Ala2180fs)

dbSNP: rs879254107
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236035 SCV000293517 uncertain significance not provided 2021-01-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in the last 107 amino acids being replaced with 121 different amino acids; Has not been previously published as pathogenic or benign to our knowledge

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