ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Houlden Lab, UCL Institute of Neurology RCV003331534 SCV003920662 pathogenic Developmental and epileptic encephalopathy, 76 no assertion criteria provided research

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