ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1761C>T (p.Ser587=)

gnomAD frequency: 0.00003  dbSNP: rs370783137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000539186 SCV000520190 likely benign not provided 2018-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22810696)
Invitae RCV002521576 SCV000647199 likely benign Familial adenomatous polyposis 1 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571290 SCV000667432 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 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 RCV000571290 SCV001343154 likely benign Hereditary cancer-predisposing syndrome 2019-06-25 criteria provided, single submitter clinical testing

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