Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311872 | SCV000847232 | likely benign | Inborn genetic diseases | 2016-07-22 | 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 | RCV002060352 | SCV002468934 | likely benign | Developmental and epileptic encephalopathy, 36 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002060352 | SCV002812507 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-11-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003431102 | SCV004167469 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ALG13: BP4, BP7, BS2 |