Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003225022 | SCV003921343 | pathogenic | not provided | 2022-10-19 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate reduced enzymatic activity and decreased protein expression (Khani et al., 1998); 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: 31589614, 17070587, 22959359, 33252155, 9020843, 9501174) |
OMIM | RCV000013884 | SCV000034131 | pathogenic | Oguchi disease-2 | 1997-02-01 | no assertion criteria provided | literature only | |
Molecular Medicine, |
RCV000013884 | SCV001245356 | likely pathogenic | Oguchi disease-2 | 2019-02-20 | no assertion criteria provided | research |