ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.334C>T (p.Arg112Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004555920 SCV005044885 uncertain significance Developmental and epileptic encephalopathy, 78 criteria provided, single submitter clinical testing

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