ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6162A>G (p.Ser2054=)

dbSNP: rs776160547
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562352 SCV000667247 likely benign Hereditary cancer-predisposing syndrome 2015-01-03 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 RCV000562352 SCV000687064 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000759437 SCV000728964 likely benign not provided 2019-07-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Invitae RCV003651982 SCV000768432 likely benign Familial adenomatous polyposis 1 2024-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759437 SCV000888756 likely benign not provided 2017-10-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000610300 SCV001623419 likely benign not specified 2021-05-08 criteria provided, single submitter clinical testing

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