ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4233T>C (p.Ser1411=)

gnomAD frequency: 0.00004  dbSNP: rs761170573
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003538546 SCV000768334 likely benign Familial adenomatous polyposis 1 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022104 SCV001183801 likely benign Hereditary cancer-predisposing syndrome 2018-11-16 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.
Color Diagnostics, LLC DBA Color Health RCV001022104 SCV001353577 likely benign Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800840 SCV002046485 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307572 SCV002600478 likely benign not specified 2022-10-13 criteria provided, single submitter clinical testing

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