ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.280T>G (p.Ser94Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127239 SCV003803771 uncertain significance Autism spectrum disorder 2021-03-31 criteria provided, single submitter clinical testing

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