Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268217 | SCV001446981 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000106317 | SCV000143780 | pathogenic | Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 2013-12-05 | no assertion criteria provided | literature only | |
Gene |
RCV000106317 | SCV000323079 | not provided | Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | no assertion provided | literature only | May be associated with less severe extracutaneous phenotype. Further studies are needed. |