Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003322778 | SCV004028434 | likely pathogenic | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | 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: 32581362, 28041643) |
NIHR Bioresource Rare Diseases, |
RCV000504873 | SCV000598890 | likely pathogenic | Albinism | 2015-01-01 | no assertion criteria provided | research |