ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)

gnomAD frequency: 0.00008  dbSNP: rs141840001
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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) RCV000175306 SCV000226773 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084777 SCV001086531 benign Intellectual disability, CASK-related, X-linked 2023-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000175306 SCV001804714 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing

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