Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173213 | SCV000224308 | uncertain significance | not provided | 2015-05-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078777 | SCV000649590 | benign | Intellectual disability, X-linked 1 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000173213 | SCV001156061 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | IQSEC2: BP4, BP7, BS2 |
Practice for Gait Abnormalities, |
RCV002226691 | SCV002505685 | likely pathogenic | Tip-toe gait | 2022-01-19 | no assertion criteria provided | clinical testing |