Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995567 | SCV001149809 | pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement | 2019-04-04 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV000995567 | SCV002577527 | likely pathogenic | X-linked central congenital hypothyroidism with late-onset testicular enlargement | 2021-11-15 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP5 |