ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.709-3C>T

dbSNP: rs2067016459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034517 SCV001197875 likely benign Intellectual disability, CASK-related, X-linked 2024-12-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332312 SCV001524586 uncertain significance Syndromic X-linked intellectual disability Najm type 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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