Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064370 | SCV001229267 | likely benign | Saldino-Mainzer syndrome | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002489684 | SCV002786862 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243459 | SCV003937348 | likely benign | Inborn genetic diseases | 2023-05-23 | 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. |