Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171486 | SCV000221685 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Department Of Translational Genomics |
RCV000162106 | SCV000196391 | likely pathogenic | Abnormality of the skeletal system; Hirsutism; Abnormal facial shape; Intellectual disability, severe | 2014-12-01 | flagged submission | research |