ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2649C>T (p.Val883=)

gnomAD frequency: 0.00004  dbSNP: rs200989942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951427 SCV001097826 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543572 SCV004760368 likely benign ADAR-related disorder 2022-11-29 no assertion criteria provided 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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