Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862354 | SCV001002850 | benign | Oculofaciocardiodental syndrome | 2023-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332766 | SCV002634035 | likely benign | Inborn genetic diseases | 2021-07-13 | 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. |
Fulgent Genetics, |
RCV002507471 | SCV002802573 | likely benign | Microphthalmia, syndromic 1; Oculofaciocardiodental syndrome | 2022-04-20 | criteria provided, single submitter | clinical testing |