ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.531= (p.Tyr177=) (rs11797)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082324 SCV000114287 benign not specified 2015-12-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082324 SCV000315232 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341237 SCV000445031 benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405847 SCV000445032 benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000082324 SCV000514966 benign not specified 2015-07-08 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000082324 SCV000540583 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Athena Diagnostics Inc RCV000713867 SCV000844506 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV001511091 SCV001718276 benign Aicardi Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2020-12-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082324 SCV001740540 benign not specified no assertion criteria provided clinical testing

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