ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3316-4C>T

gnomAD frequency: 0.00001  dbSNP: rs765304172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952577 SCV001099092 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543585 SCV004788285 likely benign ADAR-related disorder 2019-04-05 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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