ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000346816 SCV000452044 likely benign APC-Associated Polyposis Disorders 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
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 Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000494598 SCV000681855 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000436869 SCV001363499 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing

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