ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2006+15T>C

dbSNP: rs569748371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435749 SCV000521726 likely benign not specified 2017-12-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062454 SCV002401095 benign Colorectal cancer, susceptibility to, 10 2024-01-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000435749 SCV004242992 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017615 SCV004849215 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-05 criteria provided, single submitter clinical testing The c.2006+15T>C intronic alteration consists of a T to C substitution 5 nucleotides after coding exon 15 in the POLD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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