ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.753G>A (p.Glu251=)

dbSNP: rs1555790068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000576042 SCV000671217 likely benign Hereditary cancer-predisposing syndrome 2017-08-30 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.
Invitae RCV002060489 SCV002486747 likely benign Colorectal cancer, susceptibility to, 10 2021-02-17 criteria provided, single submitter clinical testing

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