ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.900G>A (p.Pro300=)

dbSNP: rs142407935
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000463694 SCV000536467 likely benign not provided 2021-09-15 criteria provided, single submitter clinical testing
Invitae RCV000990253 SCV000558681 likely benign Colorectal cancer, susceptibility to, 10 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561529 SCV000670971 likely benign Hereditary cancer-predisposing syndrome 2015-11-03 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000463694 SCV001134670 benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Mendelics RCV000990253 SCV001141138 likely benign Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing

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