ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6747+11_6747+14del

dbSNP: rs1555300789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602363 SCV000732490 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767762 SCV002432318 likely benign not provided 2024-04-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000602363 SCV005090418 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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