ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.143_144del (p.Pro48fs)

dbSNP: rs748914604
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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 RCV001262861 SCV001440888 likely pathogenic Aicardi-Goutieres syndrome 1 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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