Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001774202 | SCV001994737 | uncertain significance | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 5 amino acids are lost and replaced with 2 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002506771 | SCV002814840 | uncertain significance | Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus | 2022-05-18 | criteria provided, single submitter | clinical testing |