ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2598C>G (p.Arg866=)

gnomAD frequency: 0.00004  dbSNP: rs749389266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002171350 SCV002429519 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002171350 SCV002807689 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-09-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339930 SCV004050336 likely benign Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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