ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2317+5G>A

dbSNP: rs2147095645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001843739 SCV002102873 pathogenic Developmental disorder 2021-12-06 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV003883186 SCV004697774 likely pathogenic Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency criteria provided, single submitter clinical testing

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