ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5265G>A (p.Ala1755=) (rs34506289)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082518 SCV000153871 benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000035075 SCV000167013 benign not specified 2013-10-10 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 RCV000128954 SCV000172833 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035075 SCV000226387 benign not specified 2014-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035075 SCV000301598 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298427 SCV000452023 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035075 SCV000602517 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513120 SCV000609171 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Color RCV000128954 SCV000681721 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035075 SCV000058715 benign not specified 2008-03-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128954 SCV000693484 likely benign Hereditary cancer-predisposing syndrome 2017-08-11 no assertion criteria provided clinical testing

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