ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1503+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1468715588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732821 SCV000860811 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing
Invitae RCV002067137 SCV002324028 benign Intellectual disability, CASK-related, X-linked 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388371 SCV002696807 likely benign Inborn genetic diseases 2019-04-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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