Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724702 | SCV000225882 | uncertain significance | not provided | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724702 | SCV000541265 | benign | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764275 | SCV000895291 | uncertain significance | Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372633 | SCV004055483 | likely benign | Inborn genetic diseases | 2023-07-31 | 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. |