Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
School of Computer Science, |
RCV001376181 | SCV001573232 | likely pathogenic | MHC class II deficiency | 2021-05-06 | criteria provided, single submitter | clinical testing | Evidence categories PVS1 and PM2 in ACMG guidelines. This is a splice donor variant in gene RFX5 that may disrupt mRNA splicing and result in an absent or disrupted protein product. Its corresponding splice acceptor NC_000001.11:g.151344848C>T for the same exon 6 of transcript NM_001025603.2 had been reported as pathogenic for Bare lymphocyte syndrome, type II (ClinVar 7646). |