Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000601614 | SCV000745381 | likely benign | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002066915 | SCV002344814 | likely benign | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000601614 | SCV000733881 | likely benign | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | no assertion criteria provided | clinical testing |