Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520187 | SCV000617649 | pathogenic | not provided | 2021-09-13 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 32740904, 23420520, 29450879) |
Ce |
RCV000520187 | SCV001152405 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | RAB3GAP1: PVS1:Strong, PM2, PM3, PS4:Moderate |
Center for Genomic Medicine, |
RCV000087133 | SCV004801226 | pathogenic | Warburg micro syndrome 1 | 2024-03-14 | criteria provided, single submitter | research | |
OMIM | RCV000087133 | SCV000119994 | pathogenic | Warburg micro syndrome 1 | 2013-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000087133 | SCV000778355 | not provided | Warburg micro syndrome 1 | no assertion provided | literature only |