ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4789A>G (p.Ile1597Val)

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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 RCV004556954 SCV005045604 uncertain significance Developmental and epileptic encephalopathy, 13 2023-03-23 criteria provided, single submitter clinical testing ACMG Criteria: BS2, PP3_MOD,PM2_SUP,PP2

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