ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.462T>C (p.Asp154=) (rs3135944)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000402965 SCV000445029 likely benign Vasculopathy, retinal, with cerebral leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307455 SCV000445030 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544168 SCV000644194 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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