ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)

gnomAD frequency: 0.00053  dbSNP: rs137964936
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000514589 SCV000334092 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514589 SCV000610438 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV001087320 SCV001055284 benign Intellectual disability, CASK-related, X-linked 2023-12-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820814 SCV002066109 likely benign not specified 2018-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446518 SCV002735498 benign Inborn genetic diseases 2017-07-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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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