Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045558 | SCV001209418 | likely benign | Juvenile polyposis syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Rare Disease Genomics Group, |
RCV000488790 | SCV000576363 | uncertain significance | Pulmonary hypertension, primary, 1 | no assertion criteria provided | literature only |