Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001823017 | SCV002072521 | likely pathogenic | 46,XY sex reversal 3 | 2022-01-06 | criteria provided, single submitter | clinical testing | Criteria applied: PS2_MOD, PM1, PS3_SUP, PS4_SUP, PM2_SUP, PP3 |