ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.166-28452G>C

gnomAD frequency: 0.00443  dbSNP: rs115242894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301803 SCV000451980 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000609818 SCV000728407 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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV003315241 SCV004014944 benign Hereditary cancer-predisposing syndrome 2023-03-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912491 SCV004731746 benign APC-related disorder 2019-07-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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