ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8241T>G (p.Pro2747=)

dbSNP: rs1060504875
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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 RCV004564137 SCV000562599 likely benign Familial adenomatous polyposis 1 2023-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001027316 SCV001189855 likely benign Hereditary cancer-predisposing syndrome 2019-03-17 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 RCV001027316 SCV001346975 likely benign Hereditary cancer-predisposing syndrome 2020-02-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002210 SCV004835781 likely benign Classic or attenuated familial adenomatous polyposis 2023-10-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004564137 SCV005082012 benign Familial adenomatous polyposis 1 2024-04-15 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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