Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414948 | SCV000492939 | likely pathogenic | Anterior creases of earlobe; Delayed speech and language development; Strabismus; Glabellar hemangioma; Intellectual disability | 2014-11-21 | criteria provided, single submitter | clinical testing |