ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.397del (p.Leu133fs) (rs78762691)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000114327 SCV000803844 likely pathogenic Aicardi Goutieres syndrome 1 2015-04-07 criteria provided, single submitter clinical testing
GeneReviews RCV000114327 SCV000147893 pathogenic Aicardi Goutieres syndrome 1 2014-03-13 no assertion criteria provided literature only

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