Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001531121 | SCV001746097 | pathogenic | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001531121 | SCV001795713 | likely pathogenic | not provided | 2021-05-06 | criteria provided, single submitter | clinical testing | Published functional studies have been inconsistent as to the effect of the R422W variant, with some studies showing only a slight decrease in enzyme activity and others showing no retained enzyme activity (Dolinska et al., 2014; Mondal et al., 2016; Dolinska et al., 2017; Farney et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31589614, 33177702, 32581362, 28976636, 28451379, 13680365, 30868138, 28667292, 27537549, 27775880, 24392141, 32898648) |
Genome- |
RCV001591148 | SCV001821969 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV001591148 | SCV002580135 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism | 2022-05-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003470633 | SCV004207578 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-09-07 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000504932 | SCV000598733 | likely pathogenic | Albinism | 2015-01-01 | no assertion criteria provided | research |