Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195089 | SCV000246301 | uncertain significance | not specified | 2014-12-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000930273 | SCV001075923 | likely benign | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327023 | SCV002636723 | likely benign | Inborn genetic diseases | 2024-04-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |