Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics Laboratory, |
RCV000790577 | SCV000929929 | pathogenic | See cases | 2018-08-14 | criteria provided, single submitter | clinical testing | A risk factor for neurocognitive abnormalities with low penetrance and variable expressivity; Patient also had 18q21.32(57,940,764-58,095,560)x1 (Pathogenic) and 2q22.1q22.2(141,632,103-142,270,676)x1 (Likely benign) |
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, |
RCV000738656 | SCV000866992 | benign | not provided | 2016-12-27 | no assertion criteria provided | clinical testing |