ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.137dup (p.Ser46fs)

dbSNP: rs2107255865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730099 SCV001976930 likely pathogenic Chilblain lupus 1 2021-10-06 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP4, PP5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002286847 SCV002577565 pathogenic Aicardi-Goutieres syndrome 1 2022-07-20 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP4, PP5

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