Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634435 | SCV000755742 | benign | CHARGE association | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000766022 | SCV000897459 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003318611 | SCV004022761 | uncertain significance | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |