ClinVar Miner

Submissions for variant NM_058004.4(PI4KA):c.2819C>T (p.Ala940Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province RCV004949867 SCV005619943 uncertain significance Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 2024-12-31 criteria provided, single submitter clinical testing PM2_supporting+PM3+PP2+PP3

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