ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) (rs77371662)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850612 SCV000992845 pathogenic Aicardi Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2017-12-31 criteria provided, single submitter clinical testing
GeneReviews RCV000114325 SCV000147891 pathogenic Aicardi Goutieres syndrome 1 2014-03-13 no assertion criteria provided literature only

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