ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5465T>A (p.Val1822Asp) (rs459552)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034393 SCV000602499 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132160 SCV000187234 benign Hereditary cancer-predisposing syndrome 2014-11-13 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034393 SCV000043133 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000132160 SCV000681741 benign Hereditary cancer-predisposing syndrome 2015-03-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035078 SCV000591191 benign not specified 2012-01-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035078 SCV000109828 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
GeneReviews RCV000020089 SCV000040395 benign Familial adenomatous polyposis 1 2011-10-27 no assertion criteria provided curation Converted during submission to Benign.
ITMI RCV000035078 SCV000084185 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000358689 SCV000452027 benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000020089 SCV000647588 benign Familial adenomatous polyposis 1 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035078 SCV000058718 benign not specified 2008-03-01 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035078 SCV000257016 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000020089 SCV000189854 benign Familial adenomatous polyposis 1 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000035078 SCV000301601 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000020089 SCV000883261 benign Familial adenomatous polyposis 1 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Benign for Familial adenomatous polyposis 1. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000074239 SCV000105832 cancer Familial colorectal cancer no assertion criteria provided not provided Converted during submission to other.

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