ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1614+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003885415 SCV004698081 uncertain significance Developmental and epileptic encephalopathy, 54 2024-03-01 criteria provided, single submitter clinical testing Criteria applied: PVS1_MOD,PM1_SUP,PM2_SUP

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