ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6945A>G (p.Gln2315=) (rs786201348)

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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 RCV000163446 SCV000213993 likely benign Hereditary cancer-predisposing syndrome 2015-05-11 criteria provided, single submitter clinical testing
Counsyl RCV000410447 SCV000488797 likely benign Familial adenomatous polyposis 1 2016-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000425734 SCV000512083 likely benign not specified 2017-10-20 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 RCV000858704 SCV000562635 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Color RCV000163446 SCV000911742 likely benign Hereditary cancer-predisposing syndrome 2017-12-14 criteria provided, single submitter clinical testing

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