ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.356+6T>C

gnomAD frequency: 0.00022  dbSNP: rs200402760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080349 SCV000112245 uncertain significance not provided 2013-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082975 SCV001017219 likely benign Intellectual disability, CASK-related, X-linked 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000080349 SCV001781191 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing

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