ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3151A>C (p.Arg1051=)

dbSNP: rs757981620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584372 SCV000686923 likely benign Hereditary cancer-predisposing syndrome 2017-10-28 criteria provided, single submitter clinical testing
Invitae RCV002232519 SCV001656201 likely benign Familial adenomatous polyposis 1 2022-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584372 SCV002610539 likely benign Hereditary cancer-predisposing syndrome 2020-07-15 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488707 SCV004241780 likely benign not specified 2023-12-30 criteria provided, single submitter clinical testing

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