Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISCA site 1 | RCV000050591 | SCV000175256 | pathogenic | See cases | 2018-02-14 | no assertion criteria provided | clinical testing | |
ISCA site 4 | RCV000050591 | SCV000175258 | pathogenic | See cases | 2018-02-15 | no assertion criteria provided | clinical testing | |
ISCA site 14 | RCV000148096 | SCV000190767 | pathogenic | See cases | 2018-02-15 | no assertion criteria provided | clinical testing | Medical records review was possible in 3 out of 4 cases. Two cases presented with phenotypes correlated with the Decipher and MIM:614671 descriptions. In the third case, the phenotype may be masked by the significant global developmental delay that patient has. In one of the 3 cases reviewed, the CNV gain was maternally inherited, yet the mother has a history of panic and anxiety attacks as well as depression. For the 4th case, medical records were not available, however; the reasons for clinical testing, at age 5 years, were listed as encephalopathy, muscle weakness, and lack of coordination. |
ISCA site 4 | RCV000487472 | SCV000190768 | pathogenic | See cases | 2018-02-15 | no assertion criteria provided | clinical testing |