Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000787915 | SCV003803293 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | Reported with a second variant (phase unknown) in a patient with inherited retinal disease in published literature (Jespersgaard et al., 2019); clinical information not provided; Not observed at significant frequency in large population cohorts (gnomAD); 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: 30718709) |
Department of Clinical Genetics, |
RCV000787915 | SCV000926934 | uncertain significance | not provided | 2018-04-01 | no assertion criteria provided | research |