Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002191139 | SCV002483832 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003426359 | SCV004155478 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | GATA2: BP4, BP7 |
Ambry Genetics | RCV004973353 | SCV005596825 | likely benign | Inborn genetic diseases | 2024-08-21 | 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. |