Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000851192 | SCV000993441 | likely pathogenic | Mandibulofacial dysostosis-microcephaly syndrome | 2019-08-13 | criteria provided, single submitter | research | ACMG codes: PS2, PM2, PP3 |