Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624549 | SCV000742510 | likely pathogenic | Inborn genetic diseases | 2017-07-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001027738 | SCV001190368 | pathogenic | Rhizomelic limb shortening with dysmorphic features | 2020-03-20 | no assertion criteria provided | literature only |