Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003169069 | SCV003853567 | benign | CDKL5 disorder | 2023-03-17 | reviewed by expert panel | curation | The allele frequency of the p.Glu590Lys variant in CDKL5 is 0.015% in Latino sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Additionally, the p.Glu590Lys variant is observed in at least 14 unaffected individuals (internal database - GeneDx) (BS2) and at least 4 patients with an alternate molecular basis of disease (internal database - Invitae, internal database - GeneDx) (BP5_strong). In summary, the p.Glu590Lys variant in CDKL5 is classified as Benign for CDKL5-associated disorder based on the ACMG/AMP criteria (BS1, BS2, BP5_Strong). |
Gene |
RCV000840161 | SCV000982079 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001229301 | SCV001401743 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2024-01-30 | criteria provided, single submitter | clinical testing |