ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1722A>G (p.Glu574=) (rs786201277)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163224 SCV000213748 likely benign Hereditary cancer-predisposing syndrome 2015-02-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317916 SCV000451992 uncertain significance APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000421864 SCV000527146 likely benign not specified 2016-04-25 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 RCV000464350 SCV000562643 likely benign Familial adenomatous polyposis 1 2017-12-29 criteria provided, single submitter clinical testing
Color RCV000163224 SCV000911730 likely benign Hereditary cancer-predisposing syndrome 2018-05-01 criteria provided, single submitter clinical testing

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