ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7887C>T (p.Thr2629=)

dbSNP: rs754051042
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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 RCV000573442 SCV000667693 likely benign Hereditary cancer-predisposing syndrome 2017-01-16 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.
Color Diagnostics, LLC DBA Color Health RCV000573442 SCV000687150 likely benign Hereditary cancer-predisposing syndrome 2017-10-24 criteria provided, single submitter clinical testing
Invitae RCV003744555 SCV001091311 likely benign Familial adenomatous polyposis 1 2023-11-17 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465716 SCV002760370 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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