Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000210457 | SCV000266559 | pathogenic | Lateral meningocele syndrome | criteria provided, single submitter | research | ||
Gene |
RCV000426246 | SCV000517377 | pathogenic | not provided | 2015-06-16 | criteria provided, single submitter | clinical testing | The Y2221X variant in the NOTCH3 gene has been reported previously as a de novo finding in anindividual with features associated with lateral meningocele syndrome (Gripp et al., 2015). This variant ispredicted to cause loss of normal protein function through protein truncation and was not observed inapproximately 6200 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. We interpret Y2221X as a pathogenic variant. |
OMIM | RCV000210457 | SCV000243862 | pathogenic | Lateral meningocele syndrome | 2015-02-01 | no assertion criteria provided | literature only | |
Gene |
RCV000210457 | SCV000282676 | not provided | Lateral meningocele syndrome | no assertion provided | literature only |