ClinVar Miner

Submissions for variant NM_000038.6(APC):c.357A>G (p.Pro119=)

dbSNP: rs1306334779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020648 SCV001182156 likely benign Hereditary cancer-predisposing syndrome 2017-09-26 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.
Invitae RCV002549521 SCV001595845 likely benign Familial adenomatous polyposis 1 2023-11-20 criteria provided, single submitter clinical testing

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