ClinVar Miner

Submissions for variant NM_000038.5(APC):c.6948A>G (p.Pro2316=) (rs202144406)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220054 SCV000273929 likely benign Hereditary cancer-predisposing syndrome 2016-03-25 criteria provided, single submitter clinical testing
Color RCV000220054 SCV000681837 likely benign Hereditary cancer-predisposing syndrome 2016-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000427969 SCV000523311 likely benign not specified 2016-11-01 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 RCV000471185 SCV000562661 benign Familial adenomatous polyposis 1 2017-12-13 criteria provided, single submitter clinical testing

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