Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003235071 | SCV003933686 | likely benign | CDKL5 disorder | 2023-04-14 | reviewed by expert panel | curation | The p.Ser796= variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Ser796= variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database)(BP5). In summary, the p.Ser796= variant in CDKL5 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5). |
Eurofins Ntd Llc |
RCV000723893 | SCV000202393 | uncertain significance | not provided | 2016-05-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152959 | SCV000714536 | benign | not specified | 2015-04-01 | 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. |
Invitae | RCV001464840 | SCV001668815 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-10-03 | criteria provided, single submitter | clinical testing |