Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV001254929 | SCV001364377 | likely pathogenic | Congenital ocular coloboma; Congenital heart disease; Failure to thrive; Horseshoe kidney; Microcephaly; Dysmorphism; Hearing loss; imperforated anus; bilateral optic disc gliosis; Sacral dysplasia; Seziures | 2019-06-20 | criteria provided, single submitter | clinical testing |