ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.856_865dup (p.Ala289fs)

dbSNP: rs2040385695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197053 SCV001367688 pathogenic Systemic lupus erythematosus 2019-08-19 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM1,PP3.

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