ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8403G>A (p.Arg2801=)

dbSNP: rs759870702
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189012 SCV001356205 likely benign Hereditary cancer-predisposing syndrome 2019-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004570390 SCV001683545 likely benign Familial adenomatous polyposis 1 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001189012 SCV002677951 likely benign Hereditary cancer-predisposing syndrome 2021-04-28 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 RCV004010327 SCV004835808 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-28 criteria provided, single submitter clinical testing

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