ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3876G>A (p.Thr1292=) (rs377494451)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434349 SCV000512073 likely benign not specified 2017-02-01 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 RCV000464271 SCV000562583 likely benign Familial adenomatous polyposis 1 2016-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491341 SCV000579862 likely benign Hereditary cancer-predisposing syndrome 2015-09-25 criteria provided, single submitter clinical testing
Color RCV000491341 SCV000909265 likely benign Hereditary cancer-predisposing syndrome 2017-01-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000434349 SCV000691744 likely benign not specified no assertion criteria provided clinical testing

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