Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001507062 | SCV001712031 | uncertain significance | CDKL5 disorder | 2023-10-13 | reviewed by expert panel | curation | The c.65-4A>G variant in CDKL5 is present in 1 XX individual in gnomAD (does not meet BS1 based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.65-4A>G in CDKL5 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BP4). |
Genetic Services Laboratory, |
RCV000502023 | SCV000593960 | uncertain significance | not specified | 2016-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002527221 | SCV003323676 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-03-09 | criteria provided, single submitter | clinical testing |