ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) (rs140868933)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115125 SCV000183836 benign Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance),In silico models in agreement (benign)
Color RCV000115125 SCV000681909 benign Hereditary cancer-predisposing syndrome 2016-03-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000200966 SCV000591219 likely benign not specified 2016-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000200966 SCV000149034 benign not specified 2018-01-30 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 RCV000122806 SCV000166063 benign Familial adenomatous polyposis 1 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000200966 SCV000538290 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 1.5% (102/6614) Finnish; ClinVar: 3 B, 1 VUS
Pathway Genomics RCV000122806 SCV000207331 benign Familial adenomatous polyposis 1 2014-11-06 no assertion criteria provided clinical testing
PreventionGenetics RCV000200966 SCV000805476 benign not specified 2017-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759448 SCV000888774 benign not provided 2016-03-25 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000115125 SCV000805209 likely benign Hereditary cancer-predisposing syndrome 2018-04-05 no assertion criteria provided clinical testing

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