ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003448553 SCV004176018 likely pathogenic Aicardi-Goutieres syndrome 1 2023-11-13 criteria provided, single submitter clinical testing Criteria applied: PM5_STR,PM2_SUP,PP3,PM3_SUP

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