Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000291792 | SCV000341075 | uncertain significance | not provided | 2016-05-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001441403 | SCV001644333 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2021-10-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001660551 | SCV001880184 | likely benign | not specified | 2021-05-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348012 | SCV002644965 | likely benign | Inborn genetic diseases | 2019-10-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |