Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003159618 | SCV003853571 | benign | CDKL5 disorder | 2023-02-20 | reviewed by expert panel | curation | The allele frequency of the p.Leu522Val variant in CDKL5 is 0.011% in European Non-Finnish sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Additionally, the p.Leu522Val variant is observed in at least 2 unaffected individuals (internal database - GeneDx, internal database - Ambry Genetics) (BS2) and is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5). In summary, the p.Leu522Val variant in CDKL5 is classified as Benign for CDKL5-associated disorder according to ACMG/AMP criteria (BS1, BS2, BP5). |
Genetic Services Laboratory, |
RCV000502210 | SCV000593963 | uncertain significance | not specified | 2016-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000793868 | SCV000933245 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000831115 | SCV000972856 | likely benign | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000831115 | SCV001246517 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CDKL5: BS2 |