ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.16-7T>A

gnomAD frequency: 0.00007  dbSNP: rs190022999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064820 SCV002459385 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530838 SCV004744160 likely benign ADAR-related disorder 2019-10-28 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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