ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2155+4G>A

gnomAD frequency: 0.00001  dbSNP: rs749155089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646774 SCV000768559 likely benign Intellectual disability, CASK-related, X-linked 2023-11-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004527707 SCV002038578 uncertain significance CASK-related disorder 2021-06-16 criteria provided, single submitter clinical testing The CASK c.2155+4G>A variant is a splice region variant. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is reported at a frequency of 0.000037 in the European (non-Finnish) population of the Genome Aggregation Database (version 2.1.1). Based on the available evidence, the c.2155+4G>A variant is classified as a variant of uncertain significance for CASK-related disorders.

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