ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.432C>T (p.Phe144=)

gnomAD frequency: 0.00011  dbSNP: rs550836711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000990247 SCV000558761 likely benign Colorectal cancer, susceptibility to, 10 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573414 SCV000671062 likely benign Hereditary cancer-predisposing syndrome 2016-06-02 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 RCV000759963 SCV000889687 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Mendelics RCV000990247 SCV001141132 likely benign Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573414 SCV002534680 likely benign Hereditary cancer-predisposing syndrome 2021-07-08 criteria provided, single submitter curation

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