ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.802-6C>T

dbSNP: rs754779082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539865 SCV000289494 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000233363 SCV004017087 likely benign Colorectal cancer, susceptibility to, 12 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493547 SCV004242693 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541436 SCV004767161 likely benign POLE-related disorder 2022-06-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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