ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4326T>C (p.Pro1442=)

dbSNP: rs67622085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568977 SCV000667403 likely benign Hereditary cancer-predisposing syndrome 2015-08-24 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 RCV003537110 SCV001091271 likely benign Familial adenomatous polyposis 1 2023-06-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844199 SCV002103478 likely benign not specified 2022-02-09 criteria provided, single submitter clinical testing

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