ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1234-22G>A

gnomAD frequency: 0.02684  dbSNP: rs5963260
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711586 SCV001946123 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711586 SCV005277595 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145391 SCV000192478 likely benign not specified no assertion criteria provided clinical testing

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