ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) (rs398122893)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000032651 SCV000244024 likely pathogenic Aicardi-Goutieres syndrome 6 2013-06-27 no assertion criteria provided literature only
OMIM RCV000032651 SCV000056414 pathogenic Aicardi-Goutieres syndrome 6 2012-11-01 no assertion criteria provided literature only

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