ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2631T>A (p.Gly877=)

gnomAD frequency: 0.00001  dbSNP: rs762629631
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163245 SCV000213772 likely benign Hereditary cancer-predisposing syndrome 2016-09-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004562336 SCV000282721 likely benign Familial adenomatous polyposis 1 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000228768 SCV000516565 likely benign not provided 2019-04-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15656904)
Color Diagnostics, LLC DBA Color Health RCV000163245 SCV000681543 likely benign Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000228768 SCV001133314 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995242 SCV004839704 likely benign Classic or attenuated familial adenomatous polyposis 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562336 SCV004932918 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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