Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV000856771 | SCV000999325 | pathogenic | Microcephaly 1, primary, autosomal recessive | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000020760 | SCV000041339 | not provided | Microcephaly 5, primary, autosomal recessive | no assertion provided | literature only |