Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698164 | SCV000526418 | benign | not provided | 2020-09-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000556457 | SCV000654334 | likely benign | Developmental and epileptic encephalopathy 94 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451007 | SCV002617781 | likely benign | Inborn genetic diseases | 2018-01-25 | 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. |