ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697275 SCV005199113 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
Houlden Lab, UCL Institute of Neurology RCV003331527 SCV003920669 pathogenic Developmental and epileptic encephalopathy, 76 no assertion criteria provided research

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