ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1335+1735A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991197 SCV004808523 uncertain significance Developmental and epileptic encephalopathy, 31A 2022-11-25 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PP2, PP3, BS2_SUP (ACMG Version 4)

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