ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3909A>G (p.Gln1303=) (rs746289994)

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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 RCV000163132 SCV000213645 likely benign Hereditary cancer-predisposing syndrome 2015-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000409994 SCV000489621 likely benign Familial adenomatous polyposis 1 2016-11-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163132 SCV000681638 likely benign Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000607365 SCV000694041 likely benign not specified 2019-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000607365 SCV000728935 benign not specified 2015-06-30 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 RCV000409994 SCV000828094 likely benign Familial adenomatous polyposis 1 2020-12-02 criteria provided, single submitter clinical testing

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