ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs)

dbSNP: rs1571110158
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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, Cologne University RCV000851395 SCV000993548 likely pathogenic Aicardi-Goutieres syndrome 6 no assertion criteria provided clinical testing

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