Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465469 | SCV000561167 | benign | Creatine transporter deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696909 | SCV000725611 | likely benign | not provided | 2021-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318563 | SCV000850812 | likely benign | Inborn genetic diseases | 2017-02-10 | 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. |
Genetic Services Laboratory, |
RCV001821364 | SCV002066525 | benign | not specified | 2017-08-04 | criteria provided, single submitter | clinical testing |