ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2006+16C>T

gnomAD frequency: 0.00017  dbSNP: rs372942171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434666 SCV000526592 likely benign not specified 2017-10-05 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.
Counsyl RCV000662622 SCV000785286 likely benign Colorectal cancer, susceptibility to, 10 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000662622 SCV002401392 benign Colorectal cancer, susceptibility to, 10 2024-01-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000434666 SCV002551943 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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