ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1408+5G>A

gnomAD frequency: 0.00001  dbSNP: rs779919032
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004564073 SCV000552558 likely benign Familial adenomatous polyposis 1 2025-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776253 SCV000911505 likely benign Hereditary cancer-predisposing syndrome 2016-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776253 SCV001171740 likely benign Hereditary cancer-predisposing syndrome 2019-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004802017 SCV005424287 likely benign Classic or attenuated familial adenomatous polyposis 2024-07-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999473 SCV005624709 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing

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