Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703495 | SCV000514520 | benign | not provided | 2019-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000535380 | SCV000639630 | benign | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328921 | SCV002634155 | likely benign | Inborn genetic diseases | 2019-07-28 | 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. |
Ce |
RCV001703495 | SCV004147141 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | SCN2A: BP4, BP7, BS1 |