ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) (rs568610646)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000362671 SCV000348536 uncertain significance Symmetrical dyschromatosis of extremities 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000539038 SCV000652395 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2017-08-11 criteria provided, single submitter clinical testing

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