ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4465T>C (p.Leu1489=)

dbSNP: rs1554085897
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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 RCV000572591 SCV000667567 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 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 RCV000572591 SCV001354055 likely benign Hereditary cancer-predisposing syndrome 2019-11-25 criteria provided, single submitter clinical testing
Invitae RCV003537137 SCV001609676 likely benign Familial adenomatous polyposis 1 2023-12-04 criteria provided, single submitter clinical testing

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