Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001384574 | SCV001584117 | pathogenic | not provided | 2021-07-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000024029 | SCV000045320 | pathogenic | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2010-11-01 | no assertion criteria provided | literature only |