ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.945C>T (p.Phe315=)

gnomAD frequency: 0.00034  dbSNP: rs150116169
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679534 SCV000521092 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084634 SCV000558784 benign Colorectal cancer, susceptibility to, 10 2025-01-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000423358 SCV000601965 benign not specified 2017-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568167 SCV000671078 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 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.
PreventionGenetics, part of Exact Sciences RCV000679534 SCV000806570 likely benign not provided 2017-05-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568167 SCV002534715 benign Hereditary cancer-predisposing syndrome 2020-11-30 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000423358 SCV002551894 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398528 SCV006053563 likely benign Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 2022-11-29 criteria provided, single submitter clinical testing

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