ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.166-28546T>C

gnomAD frequency: 0.00548  dbSNP: rs113017087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615963 SCV000729733 likely benign not specified 2017-10-09 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.
Invitae RCV003765354 SCV001727862 benign Familial adenomatous polyposis 1 2022-12-06 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000208994 SCV000264848 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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