Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328236 | SCV004035167 | likely benign | CDKL5 disorder | 2023-08-23 | reviewed by expert panel | curation | The p.Arg65Gln variant in CDKL5 is present in 2 female and 1 male individuals in gnomAD (0.002%) (not sufficient to meet BS1 criteria). The p.Arg65Gln variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Arg65Gln variant is found in 2 patients with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Arg65Gln variant in CDKL5 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5). |
Gene |
RCV001574209 | SCV001800984 | likely benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17993579) |
Invitae | RCV001849961 | SCV002176286 | benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000133336 | SCV000188345 | benign | not specified | 2014-05-09 | no assertion criteria provided | curation | Reported in paper as c.193C>A, but chromatogram shows c.194G>A; found in unaffected male family member; however, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C35) |