Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253001 | SCV001428499 | likely pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia | 2018-10-02 | criteria provided, single submitter | clinical testing | This variant was identified as hemizygous |