Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488370 | SCV000575348 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | SCN11A: BP4, BP7 |
Invitae | RCV001078506 | SCV001095371 | likely benign | Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement | 2024-01-28 | criteria provided, single submitter | clinical testing |