ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4479G>A (p.Thr1493=) (rs41115)

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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 RCV000035071 SCV000109824 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162372 SCV000212682 benign Hereditary cancer-predisposing syndrome 2014-10-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035071 SCV000301595 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383485 SCV000452013 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 RCV000035071 SCV000591174 benign not specified 2012-04-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035071 SCV000602515 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Invitae RCV000755212 SCV000647520 benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000162372 SCV000681669 benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035071 SCV000058711 benign not specified 2008-03-01 no assertion criteria provided clinical testing
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000074234 SCV000105827 cancer COLORECTAL CANCER no assertion criteria provided not provided Converted during submission to other.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035071 SCV000256997 benign not specified no assertion criteria provided research

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