Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079612 | SCV000111494 | benign | not specified | 2013-06-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000079612 | SCV000194438 | likely benign | not specified | 2015-07-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000234669 | SCV000286300 | benign | Developmental and epileptic encephalopathy, 9 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311590 | SCV000845908 | benign | Inborn genetic diseases | 2016-04-25 | 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. |
Gene |
RCV001711229 | SCV001944899 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000234669 | SCV002798424 | likely benign | Developmental and epileptic encephalopathy, 9 | 2021-08-31 | criteria provided, single submitter | clinical testing |