ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1479C>T (p.Tyr493=)

dbSNP: rs1561553939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758721 SCV000887506 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV003768277 SCV002365796 likely benign Familial adenomatous polyposis 1 2023-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388379 SCV002699556 likely benign Hereditary cancer-predisposing syndrome 2020-02-06 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.

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