ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.430-27_430-20del

dbSNP: rs200962618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484120 SCV000572241 likely benign not specified 2016-11-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056803 SCV002401458 benign Intellectual disability, CASK-related, X-linked 2023-06-23 criteria provided, single submitter clinical testing

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