ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)

gnomAD frequency: 0.00001  dbSNP: rs398123811
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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) RCV000080348 SCV000112244 uncertain significance not provided 2013-10-21 criteria provided, single submitter clinical testing
Invitae RCV001854417 SCV002267373 benign Intellectual disability, CASK-related, X-linked 2023-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000080348 SCV002559421 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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