ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)

dbSNP: rs727505397
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV000157068 SCV002574962 pathogenic Syndromic X-linked intellectual disability Najm type criteria provided, single submitter not provided
Mendelics RCV000157068 SCV000206781 pathogenic Syndromic X-linked intellectual disability Najm type 2014-01-21 no assertion criteria provided clinical testing

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