Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000945995 | SCV000523352 | likely benign | not provided | 2019-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079278 | SCV001092074 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000945995 | SCV001151705 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339018 | SCV002637792 | likely benign | Inborn genetic diseases | 2017-09-20 | 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. |