ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.726G>A (p.Ala242=)

gnomAD frequency: 0.00003  dbSNP: rs757184235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698273 SCV000531189 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561083 SCV000674265 likely benign Hereditary cancer-predisposing syndrome 2015-10-14 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 RCV000876133 SCV001018661 likely benign Colorectal cancer, susceptibility to, 10 2024-12-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561083 SCV002534700 likely benign Hereditary cancer-predisposing syndrome 2021-05-14 criteria provided, single submitter curation

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