ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.-132G>T

dbSNP: rs182500056
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004568899 SCV000647348 benign Familial adenomatous polyposis 1 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000611510 SCV000728519 likely benign not specified 2017-10-10 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000611510 SCV002550541 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979998 SCV004797874 benign APC-related disorder 2020-10-15 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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