Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696840 | SCV000535871 | likely benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000653369 | SCV000775248 | benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000421520 | SCV001879626 | benign | not specified | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393062 | SCV002699426 | likely benign | Inborn genetic diseases | 2020-01-22 | 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. |