ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2409C>T (p.Asn803=)

gnomAD frequency: 0.00017  dbSNP: rs375034853
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 RCV001513647 SCV001721300 benign Intellectual disability, CASK-related, X-linked 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000941220 SCV001771592 likely benign not provided 2020-05-26 criteria provided, single submitter clinical testing

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