Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003448399 | SCV004176229 | benign | CDKL5 disorder | 2023-06-20 | reviewed by expert panel | curation | The c.761A>G p.His254Arg variant in CDKL5 (NM_001323289.2) is present in 1 XX and 2 XY individuals in gnomAD (0.0036% in the Latino/Admixed American sub population) (not sufficient to meet BS1 criteria). The p.His254Arg variant is observed in at least 2 unaffected individuals (GeneDx internal data) (BS2). The p.His254Arg variant is found in at least 3 patients with an alternate molecular basis of disease (GeneDx internal data) (BP5_Strong). Computational prediction analysis tools are inconclusive for this variant (no criteria met). In summary, the c.761A>G p.His254Arg variant in CDKL5 is classified as Benign based on the ACMG/AMP criteria (BS2, BP5_Strong). |
Invitae | RCV001359377 | SCV001555242 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557460 | SCV001779226 | likely benign | not provided | 2020-06-22 | criteria provided, single submitter | clinical testing |