ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2626C>A (p.Arg876=)

dbSNP: rs121913333
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561520 SCV000647253 likely benign Familial adenomatous polyposis 1 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561757 SCV000667353 likely benign Hereditary cancer-predisposing syndrome 2015-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000561757 SCV002051962 likely benign Hereditary cancer-predisposing syndrome 2021-06-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999372 SCV004839701 likely benign Classic or attenuated familial adenomatous polyposis 2023-09-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004561520 SCV004933501 benign Familial adenomatous polyposis 1 2024-03-14 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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