Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000458917 | SCV000552226 | benign | CHARGE association | 2022-09-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547278 | SCV001766942 | uncertain significance | not provided | 2022-03-01 | 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, |
RCV002506128 | SCV002814149 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-01-03 | criteria provided, single submitter | clinical testing |