ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1314+5_1314+8del

dbSNP: rs772325722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001427529 SCV001630213 likely benign Intellectual disability, CASK-related, X-linked 2023-01-21 criteria provided, single submitter clinical testing
GeneDx RCV002243206 SCV002513673 uncertain significance not provided 2022-05-13 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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