ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2565-13C>T

gnomAD frequency: 0.00001  dbSNP: rs559638270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662942 SCV000785902 likely benign Colorectal cancer, susceptibility to, 10 2018-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000662942 SCV002326137 benign Colorectal cancer, susceptibility to, 10 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017711 SCV004849219 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing The c.2565-13C>T intronic alteration consists of a C to T substitution 13 nucleotides before coding exon 20 in the POLD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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