Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001422922 | SCV001625483 | likely benign | not provided | 2023-11-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005680 | SCV000025862 | pathogenic | Triglyceride storage disease with ichthyosis | 2001-11-01 | no assertion criteria provided | literature only |