ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.172+1G>A

dbSNP: rs2147971387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374979 SCV001572267 uncertain significance Neurodevelopmental disorder 2020-08-03 criteria provided, single submitter clinical testing

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