Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457427 | SCV000541529 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313153 | SCV000847662 | benign | Inborn genetic diseases | 2019-04-25 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Eurofins Ntd Llc |
RCV000734431 | SCV000862573 | likely benign | not specified | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764368 | SCV001989370 | benign | not provided | 2021-06-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001764368 | SCV004162819 | benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | HCN1: BS1, BS2 |