ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2991T>C (p.Tyr997=)

dbSNP: rs864622629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003743631 SCV000261445 likely benign Familial adenomatous polyposis 1 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563228 SCV000667339 likely benign Hereditary cancer-predisposing syndrome 2016-10-31 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.
Color Diagnostics, LLC DBA Color Health RCV000563228 SCV000681569 likely benign Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563228 SCV002533725 likely benign Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter curation

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