ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.728T>C (p.Ile243Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV004666685 SCV005094588 uncertain significance Developmental and epileptic encephalopathy, 43 2024-05-15 criteria provided, single submitter clinical testing

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