Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001093500 | SCV001250522 | uncertain significance | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002069615 | SCV002326606 | likely benign | Intellectual disability, CASK-related, X-linked | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004032000 | SCV004919414 | uncertain significance | Inborn genetic diseases | 2023-11-09 | criteria provided, single submitter | clinical testing | The c.1090A>G (p.S364G) alteration is located in exon 12 (coding exon 12) of the CASK gene. This alteration results from a A to G substitution at nucleotide position 1090, causing the serine (S) at amino acid position 364 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |