Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001172428 | SCV001335487 | likely pathogenic | Fraser syndrome 1 | 2018-09-14 | criteria provided, single submitter | clinical testing | This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype |
Sydney Genome Diagnostics, |
RCV001328204 | SCV001449322 | uncertain significance | Congenital anomaly of kidney and urinary tract | 2018-10-24 | no assertion criteria provided | clinical testing | This fetus is also heterozygous for a second variant of unknown clinical significance (VOUS), c.8604+5G>A p.(?), in the FRAS1 gene. To our knowledge, this variant has not been previously reported in the literature and no frequency data is available. In silico analysis (Alamut Visual v2.4) predicts this variant to reduce the splicing efficiency of the consensus splice donor site at c.8604. However, this analysis alone cannot be used to confirm pathogenicity. |