Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258560 | SCV000320764 | likely pathogenic | Hirsutism; Abnormal facial shape; Partial duplication of thumb phalanx; Intellectual disability, severe; Clinodactyly | 2016-08-20 | criteria provided, single submitter | research |