Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415408 | SCV000492686 | likely pathogenic | Periorbital hyperpigmentation; Intestinal polyposis | 2015-11-13 | criteria provided, single submitter | clinical testing |