ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.-50CTGC[4]

dbSNP: rs371036312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404565 SCV000445012 uncertain significance Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307137 SCV000445013 uncertain significance Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695747 SCV005189404 uncertain significance not provided criteria provided, single submitter not provided

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