ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2301G>A (p.Ser767=)

gnomAD frequency: 0.00006  dbSNP: rs764156081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205437 SCV000262418 likely benign Colorectal cancer, susceptibility to, 10 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001697176 SCV000531192 likely benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572796 SCV000670996 likely benign Hereditary cancer-predisposing syndrome 2015-07-10 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.

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