ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.795_802dup (p.Arg268fs)

dbSNP: rs2107264951
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001954446 SCV002245235 uncertain significance Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2021-07-14 criteria provided, single submitter clinical testing

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