ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3199T>C (p.Leu1067=)

gnomAD frequency: 0.00004  dbSNP: rs758120128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417024 SCV001619218 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531270 SCV004718256 likely benign ADAR-related disorder 2019-07-02 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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