Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724583 | SCV000226246 | uncertain significance | not provided | 2015-02-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724583 | SCV000531201 | likely benign | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079323 | SCV000769783 | likely benign | Intellectual disability, X-linked 1 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724583 | SCV001156055 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | IQSEC2: BP4, BP7 |
Ambry Genetics | RCV002326953 | SCV002631009 | likely benign | Inborn genetic diseases | 2017-07-24 | 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. |