ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5571A>C (p.Ser1857=) (rs376624613)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162751 SCV000213226 likely benign Hereditary cancer-predisposing syndrome 2015-05-15 criteria provided, single submitter clinical testing
Invitae RCV000231667 SCV000282782 likely benign Familial adenomatous polyposis 1 2018-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000420472 SCV000535530 likely benign not specified 2017-08-15 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.
Color RCV000162751 SCV000681750 likely benign Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000420472 SCV000694080 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000586455 SCV000805437 likely benign not provided 2018-01-04 criteria provided, single submitter clinical testing

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