ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) (rs587777445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000125470 SCV001149807 pathogenic Aicardi-Goutieres syndrome 7 2019-05-07 criteria provided, single submitter clinical testing
OMIM RCV000125470 SCV000168922 pathogenic Aicardi-Goutieres syndrome 7 2014-05-01 no assertion criteria provided literature only

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