ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2655C>T (p.Ala885=)

dbSNP: rs1554084348
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583501 SCV000686902 likely benign Hereditary cancer-predisposing syndrome 2016-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583501 SCV001177155 likely benign Hereditary cancer-predisposing syndrome 2019-05-10 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192796 SCV001361154 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529135 SCV001709532 likely benign Familial adenomatous polyposis 1 2022-04-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001287 SCV004839708 likely benign Classic or attenuated familial adenomatous polyposis 2023-08-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002529135 SCV004931872 benign Familial adenomatous polyposis 1 2024-03-15 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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