Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV001004100 | SCV001162828 | likely pathogenic | Short-rib thoracic dysplasia 17 with or without polydactyly | 2020-01-16 | criteria provided, single submitter | clinical testing |