ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1958+8T>C (rs62626346)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000077982 SCV000109813 benign not specified 2012-10-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077982 SCV000301589 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379464 SCV000451993 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000477032 SCV000562613 benign Familial adenomatous polyposis 1 2020-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000077982 SCV000602529 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579978 SCV000681498 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
GeneDx RCV001610343 SCV001840718 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000073605 SCV000105196 cancer Familial colorectal cancer no assertion criteria provided not provided Converted during submission to other.
Mayo Clinic Laboratories, Mayo Clinic RCV000077982 SCV000256935 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353873 SCV000591100 benign Carcinoma of colon no assertion criteria provided clinical testing The c.1958+8T>C variant has been reported once in the InSiGHT database in an individual with familial adenomatous polyposis. It is listed in the dbSNP database (rs#:62626346) and reported from the 1000 genomes project (frequency: 0.026) and in a Chinese and Japanese cohort (frequency: 0.067) as well as the exome variant server as a low frequency variant increasing the likelihood this variant does not have clinical significance. The variant is located in the 5' splice region but does not affect the highly conserved +1 and +2 positions. In summary, based on above information this variant meets our laboratory's criteria to be classified benign.
True Health Diagnostics RCV000579978 SCV000693472 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000077982 SCV001797967 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000077982 SCV001808058 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000077982 SCV001924958 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000077982 SCV001952726 benign not specified no assertion criteria provided clinical testing

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