Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Shenzhen Institute of Pediatrics, |
RCV000490637 | SCV000574566 | likely pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia | 2017-04-27 | criteria provided, single submitter | clinical testing | Homozygous mutation was confirmed |
Mendelics | RCV000490637 | SCV002518472 | pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia | 2022-05-04 | criteria provided, single submitter | clinical testing |