ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3796-60_3798del

dbSNP: rs2138610473
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773268 SCV002001710 uncertain significance not provided 2020-01-27 criteria provided, single submitter clinical testing Deletion including a canonical splice site predicted to result in an in-frame deletion of exon 31; Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge

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