Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001764993 | SCV001989544 | uncertain significance | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Center for Genomic Medicine, |
RCV003992541 | SCV004809787 | uncertain significance | Periventricular heterotopia with microcephaly, autosomal recessive | 2024-04-04 | criteria provided, single submitter | clinical testing |