ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile)

dbSNP: rs1553207540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578411 SCV000680136 likely pathogenic Aicardi-Goutieres syndrome 6 2017-09-08 criteria provided, single submitter clinical testing

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