Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory Genomica, |
RCV000210930 | SCV000267156 | pathogenic | Norman-Roberts syndrome | 2015-12-21 | no assertion criteria provided | clinical testing | The mutation affects the conserved +1 position after exon 39. |