Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268894 | SCV001448134 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002021 | SCV000022179 | pathogenic | Weill-Marchesani syndrome 1 | 2004-11-01 | no assertion criteria provided | literature only |