ClinVar Miner

Submissions for variant NM_000038.6(APC):c.417A>G (p.Lys139=)

dbSNP: rs1554069848
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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 RCV000561844 SCV000672531 likely benign Hereditary cancer-predisposing syndrome 2016-11-30 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.
Color Diagnostics, LLC DBA Color Health RCV000561844 SCV001344230 likely benign Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing
Invitae RCV002232154 SCV001593807 likely benign Familial adenomatous polyposis 1 2021-07-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420741 SCV001623081 likely benign not specified 2021-04-23 criteria provided, single submitter clinical testing

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