ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6321C>T (p.Tyr2107=)

gnomAD frequency: 0.00003  dbSNP: rs201656807
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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 RCV003654397 SCV000556367 likely benign not provided 2024-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566362 SCV000671427 likely benign Hereditary cancer-predisposing syndrome 2015-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465669 SCV002760605 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000476567 SCV004017059 likely benign Colorectal cancer, susceptibility to, 12 2023-07-07 criteria provided, single submitter clinical testing

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