ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7575C>A (p.Arg2525=)

dbSNP: rs767974190
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026579 SCV001188989 likely benign Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV002551971 SCV001650017 likely benign Familial adenomatous polyposis 1 2023-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001712849 SCV001942342 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001026579 SCV002052183 likely benign Hereditary cancer-predisposing syndrome 2021-03-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493782 SCV004243258 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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