ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.675G>A (p.Pro225=)

gnomAD frequency: 0.00004  dbSNP: rs771459105
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441778 SCV001644715 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-12-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528911 SCV001741463 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528911 SCV001965894 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533740 SCV004740245 likely benign ADAR-related disorder 2019-09-23 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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