Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV001089711 | SCV001245195 | uncertain significance | Developmental and epileptic encephalopathy, 2 | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055856 | SCV002405819 | benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-07-30 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000133358 | SCV000188369 | uncertain significance | not specified | 2014-03-13 | no assertion criteria provided | curation | Paper ambiguous as to carrier status; In silico prediction: SIFT = deleterious, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0) |