Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000534550 | SCV000727497 | likely benign | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000534550 | SCV001151702 | uncertain significance | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001505365 | SCV001710263 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341460 | SCV002641231 | likely benign | Inborn genetic diseases | 2017-10-30 | 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. |