ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6132C>T (p.Ser2044=)

dbSNP: rs1554087237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601619 SCV000731198 likely benign not specified 2017-09-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003653232 SCV002390549 likely benign Familial adenomatous polyposis 1 2022-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358741 SCV002657022 likely benign Hereditary cancer-predisposing syndrome 2019-09-24 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.

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