Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002622684 | SCV002978091 | likely benign | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003439033 | SCV004164698 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | NR0B1: PM2:Supporting, BP4, BP7 |