ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4689A>G (p.Leu1563=)

dbSNP: rs1440495350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582217 SCV000686984 likely benign Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582217 SCV001184684 likely benign Hereditary cancer-predisposing syndrome 2018-08-30 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 RCV003538358 SCV001711653 likely benign Familial adenomatous polyposis 1 2023-06-27 criteria provided, single submitter clinical testing

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