ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7209G>A (p.Gln2403=) (rs769603145)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000346816 SCV000452044 uncertain significance APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000436869 SCV000512084 likely benign not specified 2016-03-17 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.
Ambry Genetics RCV000494598 SCV000581414 likely benign Hereditary cancer-predisposing syndrome 2015-12-12 criteria provided, single submitter clinical testing
Invitae RCV000552543 SCV000647701 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Color RCV000494598 SCV000681855 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing

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