Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001543585 | SCV001762254 | likely pathogenic | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000006182 | SCV000026364 | pathogenic | Bilateral frontoparietal polymicrogyria | 2004-03-26 | no assertion criteria provided | literature only |