ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2361G>A (p.Ala787=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002967178 SCV003286967 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536495 SCV004734806 likely benign ADAR-related disorder 2019-05-30 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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