ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.879G>C (p.Leu293=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001509928 SCV001716841 benign Aicardi Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2020-04-02 criteria provided, single submitter clinical testing

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