Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153644 | SCV000203194 | uncertain significance | not provided | 2014-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001414761 | SCV001616904 | likely benign | Developmental and epileptic encephalopathy, 9 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000153644 | SCV001944901 | likely benign | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426732 | SCV002741539 | likely benign | Inborn genetic diseases | 2018-03-07 | 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. |