ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2277C>T (p.Leu759=)

dbSNP: rs758345399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500773 SCV000593859 uncertain significance not specified 2017-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878294 SCV001021175 likely benign Intellectual disability, CASK-related, X-linked 2024-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056840 SCV002498124 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing

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