Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312805 | SCV000847311 | 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. |
Invitae | RCV002067014 | SCV002466333 | likely benign | Rafiq syndrome | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928194 | SCV004743009 | likely benign | MAN1B1-related condition | 2022-04-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Centre de Biologie Pathologie Génétique, |
RCV001252559 | SCV001428316 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |