Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598157 | SCV000708590 | uncertain significance | not provided | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317343 | SCV000850150 | likely benign | Inborn genetic diseases | 2016-08-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV002062093 | SCV002384024 | likely benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2023-10-13 | criteria provided, single submitter | clinical testing |