ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003327334 SCV004032527 uncertain significance Aicardi-Goutieres syndrome 1 2022-12-21 criteria provided, single submitter clinical testing

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