ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.834G>A (p.Thr278=)

gnomAD frequency: 0.00004  dbSNP: rs758368160
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430976 SCV000522956 likely benign not specified 2016-12-06 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.
Ambry Genetics RCV000563153 SCV000671541 likely benign Hereditary cancer-predisposing syndrome 2017-04-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003654266 SCV000772831 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430976 SCV004021041 likely benign not specified 2023-06-17 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000430976 SCV005089993 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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