ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2252_2253del (p.Gly751fs)

dbSNP: rs2147095950
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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 RCV002277662 SCV002564474 pathogenic Neurodevelopmental disorder 2022-02-08 criteria provided, single submitter clinical testing

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