Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712359 | SCV000515296 | benign | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000532094 | SCV000641872 | likely benign | Mowat-Wilson syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000532094 | SCV002045669 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450968 | SCV002736854 | likely benign | Inborn genetic diseases | 2018-01-16 | 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. |
Ce |
RCV001712359 | SCV004151257 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | ZEB2: BP4, BP7 |