ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2508C>T (p.Asp836=)

gnomAD frequency: 0.00003  dbSNP: rs375734729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515201 SCV001723220 benign Intellectual disability, CASK-related, X-linked 2024-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531775 SCV001747050 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424953 SCV002742270 likely benign Inborn genetic diseases 2017-09-18 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994301 SCV004813986 likely benign not specified 2024-02-07 criteria provided, single submitter clinical testing

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