ClinVar Miner

Submissions for variant NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)

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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 RCV003315196 SCV004014820 uncertain significance Developmental and epileptic encephalopathy, 44 2023-06-13 criteria provided, single submitter clinical testing

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