ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.-181C>T

gnomAD frequency: 0.00491  dbSNP: rs115658307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003767019 SCV000647366 benign Familial adenomatous polyposis 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000614459 SCV000728647 likely benign not specified 2017-10-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811056 SCV001159748 benign not provided 2019-08-02 criteria provided, single submitter clinical testing

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