Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Genetics, |
RCV000761518 | SCV000891649 | likely pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2017-12-30 | criteria provided, single submitter | curation |