ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.198G>A (p.Lys66=) (rs3135943)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516659 SCV000615843 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265759 SCV000445018 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318491 SCV000445019 likely benign Vasculopathy, retinal, with cerebral leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533810 SCV000644193 benign Aicardi Goutieres syndrome 1; Vasculopathy, retinal, with cerebral leukodystrophy; Chilblain lupus erythematosus 2017-10-19 criteria provided, single submitter clinical testing

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