Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
School of Computer Science, |
RCV001376187 | SCV001573239 | pathogenic | Fraser syndrome 1 | 2021-05-06 | criteria provided, single submitter | clinical testing | Evidence categories PVS1, PM2 and PM4 in ACMG guidelines. This is a stop-gained variant in gene FRAS1, which causes a premature termination codon NP_079350.5:p.Lys2068Ter. Two other stop-gained, loss-of-function variants in the same gene have been reported in ClinVar (435260, 197861). |