ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.912G>A (p.Leu304=)

gnomAD frequency: 0.04049  dbSNP: rs3135945
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242644 SCV000315233 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353208 SCV000445037 benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260731 SCV000445038 benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537156 SCV000644196 benign Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2024-02-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795465 SCV002036820 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000242644 SCV002038502 benign not specified no assertion criteria provided clinical testing

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