ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.*37T>C

gnomAD frequency: 0.03909  dbSNP: rs3135946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332317 SCV000445039 benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386027 SCV000445040 benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672632 SCV001884963 benign not provided 2017-08-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672632 SCV005305284 benign not provided criteria provided, single submitter not provided

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