ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)

dbSNP: rs1064793942
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV001263427 SCV001424329 likely pathogenic Aicardi-Goutieres syndrome 3 criteria provided, single submitter clinical testing

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