ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2778T>C (p.Ser926=) (rs371526966)

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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 RCV000220698 SCV000275426 likely benign Hereditary cancer-predisposing syndrome 2015-04-23 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000530592 SCV000600063 benign not provided 2019-03-26 criteria provided, single submitter clinical testing
Invitae RCV001084802 SCV000647267 likely benign Familial adenomatous polyposis 1 2020-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000530592 SCV000728926 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing
Color Health, Inc RCV000220698 SCV000904122 likely benign Hereditary cancer-predisposing syndrome 2018-02-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507103 SCV000916508 likely benign not specified 2019-11-25 criteria provided, single submitter clinical testing

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