Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genomic Medicine, |
RCV001002699 | SCV001156401 | pathogenic | Mevalonic aciduria | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442138 | SCV004168155 | uncertain significance | not provided | 2023-05-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28341476) |
Dept Of Ophthalmology, |
RCV003890156 | SCV004707726 | likely pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |