Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISCA site 15 | RCV000054299 | SCV000081664 | likely pathogenic | See cases | 2018-01-24 | no assertion criteria provided | clinical testing | Phenotype now well established for this duplication and fits with phenotype of our patient and 3 other affected members of this family. As incomplete penetrance regard as likely pathogenic rather than pathogenic as no explanation as to why some individuals are affected and some not. |