Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705377 | SCV000834370 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585656 | SCV001819981 | uncertain significance | not provided | 2019-10-08 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in heterozygous state in an individual with isolated hypogonadotropic hypogonadism (Zhou et al., 2018); This variant is associated with the following publications: (PMID: 30098700) |