Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653376 | SCV000775255 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317902 | SCV000850157 | likely benign | Inborn genetic diseases | 2016-08-30 | 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. |
Gene |
RCV001550160 | SCV001770447 | likely benign | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing |