Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520254 | SCV000621355 | pathogenic | not provided | 2020-02-12 | criteria provided, single submitter | clinical testing | Reported in an individual with a post-transplant lymphoproliferative disorder in published literature; however, no additional information was provided (Margolskee et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27203213) |
Gene |
RCV001580301 | SCV001809976 | not provided | FG syndrome 1 | no assertion provided | literature only | De novo variant in a female with nonspecific intellectual disability |