Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001707807 | SCV000725417 | likely benign | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000867105 | SCV001008298 | likely benign | Creatine transporter deficiency | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821744 | SCV002071155 | likely benign | not specified | 2019-09-04 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252178 | SCV002523437 | likely benign | See cases | 2020-01-03 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2, BP4, BP6 |