Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535867 | SCV000652283 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591266 | SCV001825427 | uncertain significance | not provided | 2021-08-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge In silico analysis supports a deleterious effect on splicing Observed in 0.0185% (36/195066 alleles) in large population cohorts (Lek et al., 2016) |
Ambry Genetics | RCV002530203 | SCV003554174 | likely benign | Inborn genetic diseases | 2021-06-18 | 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. |