Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727910 | SCV000727470 | likely benign | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727910 | SCV000855417 | uncertain significance | not provided | 2017-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001411719 | SCV001613784 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358731 | SCV002652789 | likely benign | Inborn genetic diseases | 2017-06-12 | 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. |