ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4359T>C (p.Pro1453=)

gnomAD frequency: 0.00001  dbSNP: rs369121091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567677 SCV000667746 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 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 RCV003767161 SCV002493908 likely benign Familial adenomatous polyposis 1 2022-07-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000997 SCV004837921 likely benign Classic or attenuated familial adenomatous polyposis 2024-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525977 SCV005039930 likely benign not specified 2024-03-09 criteria provided, single submitter clinical testing

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