ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)

dbSNP: rs777034646
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987264 SCV001136516 likely pathogenic Aicardi-Goutieres syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001759678 SCV001986900 uncertain significance not provided 2019-04-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252278 SCV002523340 uncertain significance See cases 2023-01-31 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PM3, PP4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000987264 SCV003806827 uncertain significance Aicardi-Goutieres syndrome 1 2023-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM3 moderated, PP4

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