Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000655757 | SCV000777688 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531537 | SCV001746727 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SYNJ1: PP3, BS2 |
Gene |
RCV001531537 | SCV001872766 | uncertain significance | not provided | 2021-08-18 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously reported as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31592138) |