ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.574C>T (p.Leu192=)

gnomAD frequency: 0.00011  dbSNP: rs374937343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226855 SCV000287637 likely benign Colorectal cancer, susceptibility to, 10 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000429368 SCV000528246 likely benign not specified 2017-11-14 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 RCV000562712 SCV000670991 likely benign Hereditary cancer-predisposing syndrome 2015-06-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000429368 SCV002551877 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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