ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2052G>A (p.Ala684=)

gnomAD frequency: 0.00039  dbSNP: rs148041309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873891 SCV001015980 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411860 SCV004124871 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004541724 SCV004790583 likely benign ADAR-related disorder 2019-03-25 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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