Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863649 | SCV001004344 | likely benign | Creatine transporter deficiency | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726348 | SCV001962660 | likely benign | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409021 | SCV002721051 | likely benign | Inborn genetic diseases | 2019-10-23 | 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. |
Natera, |
RCV001279583 | SCV001466681 | likely benign | Creatine deficiency syndrome 1 | 2020-08-07 | no assertion criteria provided | clinical testing |