ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1315-10A>G

gnomAD frequency: 0.00006  dbSNP: rs375004542
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725078 SCV000333823 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000356667 SCV000593854 likely benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Invitae RCV001087999 SCV000647900 benign Intellectual disability, CASK-related, X-linked 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000725078 SCV001782186 likely benign not provided 2019-10-28 criteria provided, single submitter clinical testing

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