Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001391335 | SCV001005565 | likely benign | Primary pulmonary hypertension | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Rare Disease Genomics Group, |
RCV000488657 | SCV000576302 | uncertain significance | Pulmonary hypertension, primary, 1 | no assertion criteria provided | literature only | ||
Center for Reproductive Medicine, |
RCV001662473 | SCV001877126 | likely pathogenic | Genetic non-acquired premature ovarian failure | 2019-10-01 | no assertion criteria provided | research |