Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000415289 | SCV000328725 | likely pathogenic | Holoprosencephaly 9 | 2015-03-13 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in GLI2 (NM_005270.4, c.4654A>T) and SCN2A (NM_021007.2, c.2229_2230del) in one individual with reported features of delayed motor milestones, delayed speech, autism, and undermyelination on brain MRI. |