ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6678G>A (p.Gly2226=)

gnomAD frequency: 0.00001  dbSNP: rs1162754521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568630 SCV000671462 likely benign Hereditary cancer-predisposing syndrome 2015-11-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759317 SCV000888571 likely benign not provided 2017-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000759317 SCV001072706 likely benign not provided 2024-06-04 criteria provided, single submitter clinical testing

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