Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001702655 | SCV000527824 | likely benign | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313095 | SCV000848861 | benign | Inborn genetic diseases | 2017-01-23 | 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. |
Invitae | RCV000862719 | SCV001003262 | benign | Developmental and epileptic encephalopathy, 36 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000418963 | SCV001880127 | benign | not specified | 2021-03-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000862719 | SCV002524946 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000862719 | SCV002801296 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001702655 | SCV004167468 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | ALG13: BP4, BP7, BS2 |
Genome Diagnostics Laboratory, |
RCV001702655 | SCV001933013 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702655 | SCV001970157 | likely benign | not provided | no assertion criteria provided | clinical testing |