ClinVar Miner

Submissions for variant NM_000038.6(APC):c.259C>T (p.Leu87=) (rs569640184)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079418 SCV000166022 benign Familial adenomatous polyposis 1 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163523 SCV000214081 likely benign Hereditary cancer-predisposing syndrome 2015-04-21 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.
GeneDx RCV000122765 SCV000524797 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163523 SCV000681538 benign Hereditary cancer-predisposing syndrome 2016-05-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000122765 SCV001133312 benign not provided 2019-02-14 criteria provided, single submitter clinical testing

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