ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.912G>A (p.Leu304=) (rs3135945)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242644 SCV000315233 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353208 SCV000445037 benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260731 SCV000445038 benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537156 SCV000644196 benign Aicardi Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2020-12-04 criteria provided, single submitter clinical testing

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