ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1692A>C (p.Arg564=)

dbSNP: rs763295800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012769 SCV001173264 likely benign Hereditary cancer-predisposing syndrome 2019-05-22 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 RCV003537392 SCV001673834 likely benign Familial adenomatous polyposis 1 2023-10-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478616 SCV004221642 likely benign not provided 2023-03-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001012769 SCV004362639 likely benign Hereditary cancer-predisposing syndrome 2023-04-23 criteria provided, single submitter clinical testing

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