ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.222G>A (p.Arg74=)

gnomAD frequency: 0.00010  dbSNP: rs150423721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951588 SCV001098001 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000951588 SCV002802855 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338879 SCV004050394 likely benign Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411913 SCV004124881 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004533651 SCV004737390 likely benign ADAR-related disorder 2020-03-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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