ClinVar Miner

Submissions for variant NM_000038.6(APC):c.573T>C (p.Tyr191=) (rs185154886)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197836 SCV000252589 benign Familial adenomatous polyposis 1 2017-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309947 SCV000451983 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000426052 SCV000516690 likely benign not specified 2017-09-21 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000426052 SCV000600118 likely benign not specified 2017-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573062 SCV000667229 likely benign Hereditary cancer-predisposing syndrome 2015-01-05 criteria provided, single submitter clinical testing
Color RCV000573062 SCV000681759 benign Hereditary cancer-predisposing syndrome 2016-03-26 criteria provided, single submitter clinical testing

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