ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1332C>T (p.His444=)

gnomAD frequency: 0.00007  dbSNP: rs753172505
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521154 SCV001730435 benign Intellectual disability, CASK-related, X-linked 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438862 SCV004164901 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing CASK: BP4, BP7

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