Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISCA site 14 | RCV000052074 | SCV000079423 | likely pathogenic | See cases | 2017-08-30 | criteria provided, single submitter | clinical testing | Patient does not have HPE, but has developmental delay, Cleft Palate, microcephaly, a concern for ptosis in the right eye, left facial nerve palsy, and facial asymmetry. |