ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2251-8G>A

gnomAD frequency: 0.00013  dbSNP: rs56051075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229243 SCV000287561 benign Colorectal cancer, susceptibility to, 10 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000859009 SCV000522191 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Counsyl RCV000229243 SCV000786537 likely benign Colorectal cancer, susceptibility to, 10 2018-05-21 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465583 SCV002761067 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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