Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061516 | SCV001226261 | likely benign | CHARGE association | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225788 | SCV002503931 | uncertain significance | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002482057 | SCV002793916 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-05-23 | criteria provided, single submitter | clinical testing |