ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3471G>A (p.Glu1157=) (rs143927847)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077989 SCV000109821 benign not specified 2013-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000077989 SCV000167006 benign not specified 2014-01-15 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.
Ambry Genetics RCV000128969 SCV000172852 benign Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000195873 SCV000252585 benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353083 SCV000452007 benign APC-Associated Polyposis Disorders 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000077989 SCV000591144 benign not specified 2012-11-20 criteria provided, single submitter clinical testing
Color RCV000128969 SCV000681608 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077989 SCV000805396 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000077989 SCV001158624 benign not specified 2018-07-30 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000077989 SCV000691736 likely benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000128969 SCV000693479 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 no assertion criteria provided clinical testing

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